Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences-Reference-Cited by-同舟云学术

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Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

Published:1995-03 Issue:3 Volume:95 Page:
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Estivill X.,Llevadot R.,Gim�nez J.,Nunes V.,Casals T.,Ortigosa L.,P�rez-Frias J.,Dapena J.,Ferrer J.,Pe�a J.,Pe�a L.,Cobos N.,V�zquez C.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00225203.pdf

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional Profiling of CFTR-Directed Therapeutics Using Pediatric Patient-Derived Nasal Epithelial Cell Models;Frontiers in Pediatrics;2020-09-04

2. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2020

3. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. Understanding genetic disease in a socio-historical context: a case study of cystic fibrosis;Sociology of Health and Illness;2005-11

5. La mucoviscidose : les relations entre le génotype et le phénotype;Archives de Pédiatrie;2003-09

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