Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1996-10-10
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.
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
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
413-5
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
pubmed:affiliation
Hospital Nuestra Señora La Candelaria, Santa Cruz de Tenerife, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't