Large genomic rearrangements in the CFTR gene contribute to CBAVD

BACKGROUND: By performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had previously identified point mutations in 167 out of 182 (91.7%) males with isolated congenital bilateral absence of the vas deferens (CBA...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Taulan, Magali, Girardet, Anne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Beroud, Christophe, des Georges, Marie, Claustres, Mireille
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2007
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1876208/
https://ncbi.nlm.nih.gov/pubmed/17448246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-22
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky