Article
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.
Clinical genetics - 1 Feb 2015
Girardet A, Ishmukhametova A, Willems M, Coubes C, Hamamah S, Anahory T, Des Georges M, Claustres M
Abstract excerpt
This study provides an overview of 10 years of experience of preimplantation genetic diagnosis (PGD) for cystic fibrosis (CF) in our center. Owing to the high allelic heterogeneity of CF transmembrane conductance regulator (CFTR) mutations in south of France, we have set up a powerful universal test based on haplotyping eight short tandem repeats (STR) markers together with the major mutation p.Phe508del. Of 142...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
