Literature DB >> 15562283

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.

Marion Viel, Chrystel Leroy, Marie Des Georges, Mireille Claustres, Thierry Bienvenu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15562283     DOI： 10.1038/sj.ejhg.5201261

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  5 in total

1.  Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

Authors:  Corinne Bareil; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Mireille Claustres; Marie des Georges
Journal:  J Mol Diagn       Date:  2007-11       Impact factor: 5.568

2.  Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.

Authors:  Catherine Costa; Jean-Marc Costa; Josiane Martin; Brigitte Boissier; Michel Goossens; Emmanuelle Girodon
Journal:  Clin Chem       Date:  2008-09       Impact factor: 8.327

3.  PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers.

Authors:  Joana Barros Roque; Caroline A O'Leary; Myat Kyaw-Tanner; David L Duffy; Puya Gharahkhani; Linda Vogelnest; Kenneth Mason; Michael Shipstone
Journal:  BMC Res Notes       Date:  2011-12-30

4.  Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study.

Authors:  Morten Dahl; Anne Tybjaerg-Hansen; Peter Lange; Børge G Nordestgaard
Journal:  Respir Res       Date:  2005-10-09

5.  Azoospermia: vasal agenesis.

Authors:  J Sam Fisher; Edward D Kim
Journal:  Asian J Androl       Date:  2022 Jan-Feb       Impact factor: 3.285
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.