rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
4
|
pubmed:dateCreated |
2005-2-8
|
pubmed:abstractText |
Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1000 cystic fibrosis transmembrane conductance regulator (CFTR) mutations presently described. The distribution of the mutations ranges widely between countries and/or ethnic groups. Multicentric studies are usually needed to study the genotype-phenotype correlations.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
1569-1993
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
3
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
259-63
|
pubmed:dateRevised |
2009-6-26
|
pubmed:meshHeading |
pubmed-meshheading:15698945-Adolescent,
pubmed-meshheading:15698945-Adult,
pubmed-meshheading:15698945-Alleles,
pubmed-meshheading:15698945-Child,
pubmed-meshheading:15698945-Child, Preschool,
pubmed-meshheading:15698945-Cystic Fibrosis,
pubmed-meshheading:15698945-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:15698945-Female,
pubmed-meshheading:15698945-France,
pubmed-meshheading:15698945-Gene Frequency,
pubmed-meshheading:15698945-Genotype,
pubmed-meshheading:15698945-Humans,
pubmed-meshheading:15698945-Infant,
pubmed-meshheading:15698945-Infant, Newborn,
pubmed-meshheading:15698945-Male,
pubmed-meshheading:15698945-Mutation,
pubmed-meshheading:15698945-Phenotype,
pubmed-meshheading:15698945-Registries,
pubmed-meshheading:15698945-Retrospective Studies
|
pubmed:year |
2004
|
pubmed:articleTitle |
Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.
|
pubmed:affiliation |
Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|