Linked Life Data

9630075

Source:http://linkedlifedata.com/resource/pubmed/id/9630075

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1998-8-5
pubmed:abstractText
We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator (CFTR) gene for a stop mutation W1282X and a new missense mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives, are revealed only in combination with a severe CFTR mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
202-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
pubmed:affiliation
Servizio Universitario Convenzionato di Genetica Medica, Azienda Ospedaliera S. Giovanni Battista, Torino, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't