rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1996-10-10
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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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-1437575,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-1549504,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-1945860,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-1973839,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-2027784,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-2875078,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-3472423,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-4430158,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-7580242,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-7833935,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-8004109,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-8162049,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-8255457,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-8266101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-8371995,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8733054-8413670
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0022-2593
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pubmed:author |
|
pubmed:issnType |
Print
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pubmed:volume |
33
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
413-5
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:8733054-Arginine,
pubmed-meshheading:8733054-Base Sequence,
pubmed-meshheading:8733054-Charcot-Marie-Tooth Disease,
pubmed-meshheading:8733054-Connexins,
pubmed-meshheading:8733054-DNA Primers,
pubmed-meshheading:8733054-Female,
pubmed-meshheading:8733054-Genes, Dominant,
pubmed-meshheading:8733054-Humans,
pubmed-meshheading:8733054-Male,
pubmed-meshheading:8733054-Molecular Sequence Data,
pubmed-meshheading:8733054-Pedigree,
pubmed-meshheading:8733054-Phenotype,
pubmed-meshheading:8733054-Tryptophan,
pubmed-meshheading:8733054-X Chromosome
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pubmed:year |
1996
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pubmed:articleTitle |
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
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pubmed:affiliation |
Hospital Nuestra Señora La Candelaria, Santa Cruz de Tenerife, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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