| pubmed-article:8270256 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C0032706 | lld:lifeskim |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C0032520 | lld:lifeskim |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C0002085 | lld:lifeskim |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C0205369 | lld:lifeskim |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C0422392 | lld:lifeskim |
| pubmed-article:8270256 | lifeskim:mentions | umls-concept:C1521871 | lld:lifeskim |
| pubmed-article:8270256 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:8270256 | pubmed:dateCreated | 1994-2-3 | lld:pubmed |
| pubmed-article:8270256 | pubmed:abstractText | Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene. Two new mutations have been found in the PBGD gene in Swedish families. The first is a G to A splice mutation in the last position of intron 9. A screening method using allele-specific amplification has been designed for the rapid detection of this mutation. The second mutation is a C to T substitution in exon 10, changing Arg201 to Trp. This mutation can be detected by restriction enzyme cleavage. | lld:pubmed |
| pubmed-article:8270256 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8270256 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8270256 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8270256 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8270256 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8270256 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8270256 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8270256 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:8270256 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:8270256 | pubmed:author | pubmed-author:ThunellSS | lld:pubmed |
| pubmed-article:8270256 | pubmed:author | pubmed-author:LundinGG | lld:pubmed |
| pubmed-article:8270256 | pubmed:author | pubmed-author:AnvretMM | lld:pubmed |
| pubmed-article:8270256 | pubmed:author | pubmed-author:WedellAA | lld:pubmed |
| pubmed-article:8270256 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8270256 | pubmed:volume | 93 | lld:pubmed |
| pubmed-article:8270256 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8270256 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8270256 | pubmed:pagination | 59-62 | lld:pubmed |
| pubmed-article:8270256 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:meshHeading | pubmed-meshheading:8270256-... | lld:pubmed |
| pubmed-article:8270256 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8270256 | pubmed:articleTitle | Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. | lld:pubmed |
| pubmed-article:8270256 | pubmed:affiliation | Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden. | lld:pubmed |
| pubmed-article:8270256 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8270256 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:3145 | entrezgene:pubmed | pubmed-article:8270256 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8270256 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8270256 | lld:pubmed |
