Article
Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
Fertility and sterility - 1 Nov 2008
Brugnon Florence, Bilan Frederic, Heraud Marie-Christine, Grizard Genevieve, Janny Laurent, Creveaux Isabelle
Abstract excerpt
OBJECTIVE: To document the phenotype associated with the p.[R74W;V201M;D1270N] and p.P841R mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. DESIGN: Case report. SETTING: Biology and medicine of reproduction in a university hospital. PATIENT(S): A couple in which the man is carrier of the triple mutant p.[R74W;V201M;D1270N] allele in trans to p.P841R mutation and his spouse a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.