| pubmed-article:8162049 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8162049 | lifeskim:mentions | umls-concept:C0007959 | lld:lifeskim |
| pubmed-article:8162049 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8162049 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8162049 | lifeskim:mentions | umls-concept:C1847879 | lld:lifeskim |
| pubmed-article:8162049 | lifeskim:mentions | umls-concept:C0163743 | lld:lifeskim |
| pubmed-article:8162049 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:8162049 | pubmed:dateCreated | 1994-5-23 | lld:pubmed |
| pubmed-article:8162049 | pubmed:abstractText | X-linked dominant Charcot-Marie-Tooth disease (CMTX1) is a peripheral neuropathy which maps to Xq13 and is flanked by the loci DXS106 (Xq11.2-q12) and DXS559 (Xq13.1). Contained within this interval of approximately 2-3Mb of DNA is the gene, connexin 32 (locus designation GJ beta 1). This gene encodes a gap junction protein which is expressed in large quantities within the liver and throughout a range of other mammalian tissues. We have sequenced the coding region of exon 2 of this gene from affected individuals in nine families with CMTX 1 and have found mutations which segregate with the disease in eight of these families. The mutations detected include missense point mutations at codons 15, 60, 63, 208, and 215, a nonsense point mutation at codon 220, deletions of one base in codon 72/3 producing a stop codon 12 codons down stream and a three base pair deletion which can be predicted to result in the loss of a single amino acid. These findings are consistent with the disease CMTX1 being the result of mutations affecting the gene connexin 32 (Cx32). | lld:pubmed |
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| pubmed-article:8162049 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8162049 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8162049 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8162049 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8162049 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8162049 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:8162049 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:BellCC | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:ChellyJJ | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:WangSS | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:MonacoA PAP | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:MostacciuoloM... | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:FairweatherNN | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:HaitesN ENE | lld:pubmed |
| pubmed-article:8162049 | pubmed:author | pubmed-author:CochraneSS | lld:pubmed |
| pubmed-article:8162049 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8162049 | pubmed:volume | 3 | lld:pubmed |
| pubmed-article:8162049 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8162049 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8162049 | pubmed:pagination | 29-34 | lld:pubmed |
| pubmed-article:8162049 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:8162049 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8162049 | pubmed:articleTitle | Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) | lld:pubmed |
| pubmed-article:8162049 | pubmed:affiliation | Department of Molecular and Cell Biology, University of Aberdeen, Medical School, UK. | lld:pubmed |
| pubmed-article:8162049 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8162049 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:8162049 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:8162049 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2705 | entrezgene:pubmed | pubmed-article:8162049 | lld:entrezgene |
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