| pubmed-article:8733054 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C0007959 | lld:lifeskim |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C1704666 | lld:lifeskim |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C1517892 | lld:lifeskim |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C1706204 | lld:lifeskim |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C1527180 | lld:lifeskim |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C1555721 | lld:lifeskim |
| pubmed-article:8733054 | lifeskim:mentions | umls-concept:C0208973 | lld:lifeskim |
| pubmed-article:8733054 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:8733054 | pubmed:dateCreated | 1996-10-10 | lld:pubmed |
| pubmed-article:8733054 | pubmed:abstractText | A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site. | lld:pubmed |
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| pubmed-article:8733054 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8733054 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8733054 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8733054 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:8733054 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8733054 | pubmed:month | May | lld:pubmed |
| pubmed-article:8733054 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:8733054 | pubmed:author | pubmed-author:PintoFF | lld:pubmed |
| pubmed-article:8733054 | pubmed:author | pubmed-author:GonzalezAA | lld:pubmed |
| pubmed-article:8733054 | pubmed:author | pubmed-author:CabreraV MVM | lld:pubmed |
| pubmed-article:8733054 | pubmed:author | pubmed-author:OterinoAA | lld:pubmed |
| pubmed-article:8733054 | pubmed:author | pubmed-author:MontónF IFI | lld:pubmed |
| pubmed-article:8733054 | pubmed:author | pubmed-author:LavillaN RNR | lld:pubmed |
| pubmed-article:8733054 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8733054 | pubmed:volume | 33 | lld:pubmed |
| pubmed-article:8733054 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8733054 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8733054 | pubmed:pagination | 413-5 | lld:pubmed |
| pubmed-article:8733054 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
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| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
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| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
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| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
| pubmed-article:8733054 | pubmed:meshHeading | pubmed-meshheading:8733054-... | lld:pubmed |
| pubmed-article:8733054 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8733054 | pubmed:articleTitle | Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease. | lld:pubmed |
| pubmed-article:8733054 | pubmed:affiliation | Hospital Nuestra Señora La Candelaria, Santa Cruz de Tenerife, Spain. | lld:pubmed |
| pubmed-article:8733054 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8733054 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2705 | entrezgene:pubmed | pubmed-article:8733054 | lld:entrezgene |
