| pubmed-article:2236053 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0010674 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0205147 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0028630 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0001480 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C1167622 | lld:lifeskim |
| pubmed-article:2236053 | lifeskim:mentions | umls-concept:C0332462 | lld:lifeskim |
| pubmed-article:2236053 | pubmed:issue | 21 | lld:pubmed |
| pubmed-article:2236053 | pubmed:dateCreated | 1990-12-7 | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:abstractText | Additional mutations in the cystic fibrosis (CF) gene were identified in the regions corresponding to the two putative nucleotide (ATP)-binding folds (NBFs) of the predicted polypeptide. The patient cohort included 46 Canadian CF families with well-characterized DNA marker haplotypes spanning the disease locus and several other families from Israel. Eleven mutations were found in the first NBF, 2 were found in the second NBF, but none was found in the R-domain. Seven of the mutations were of the missense type affecting some of the highly conserved amino acid residues in the first NBF; 3 were nonsense mutations; 2 would probably affect mRNA splicing; 2 corresponded to small deletions, including another 3-base-pair deletion different from the major mutation (delta F508), which could account for 70% of the CF chromosomes in the population. Nine of these mutations accounted for 12 of the 31 non-delta F508 CF chromosomes in the Canadian families. The highly heterogeneous nature of the remaining CF mutations provides important insights into the structure and function of the protein, but it also suggests that DNA-based genetic screening for CF carrier status will not be straightforward. | lld:pubmed |
| pubmed-article:2236053 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:language | eng | lld:pubmed |
| pubmed-article:2236053 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:2236053 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2236053 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:2236053 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:2236053 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:RiordanJ RJR | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:GazitEE | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:MarkiewiczDD | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:YahavJJ | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:KennedyDD | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:CollinsF SFS | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:BozonDD | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:ZielenskiJJ | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:KeremB SBS | lld:pubmed |
| pubmed-article:2236053 | pubmed:author | pubmed-author:RommensJ MJM | lld:pubmed |
| pubmed-article:2236053 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:2236053 | pubmed:volume | 87 | lld:pubmed |
| pubmed-article:2236053 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:2236053 | pubmed:authorsComplete | N | lld:pubmed |
| pubmed-article:2236053 | pubmed:pagination | 8447-51 | lld:pubmed |
| pubmed-article:2236053 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:meshHeading | pubmed-meshheading:2236053-... | lld:pubmed |
| pubmed-article:2236053 | pubmed:year | 1990 | lld:pubmed |
| pubmed-article:2236053 | pubmed:articleTitle | Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. | lld:pubmed |
| pubmed-article:2236053 | pubmed:affiliation | Department of Genetics, Hospital for Sick Children, Toronto, ON, Canada. | lld:pubmed |
| pubmed-article:2236053 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:2236053 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:2236053 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:1080 | entrezgene:pubmed | pubmed-article:2236053 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:2236053 | lld:pubmed |
