p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study-Reference-Cited by-同舟云学术

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

Published:2010-08-18 Issue:1 Volume:19 Page:36-42
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

René Céline,Paulet Damien,Girodon Emmanuelle,Costa Catherine,Lalau Guy,Leclerc Julie,Cabet-Bey Faïza,Bienvenu Thierry,Blayau Martine,Iron Albert,Mittre Hervé,Feldmann Delphine,Guittard Caroline,Claustres Mireille,Georges Marie des

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010137.pdf

Reference42 articles.

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2. Cotton RG, Scriver CR : Proof of ‘disease causing’ mutation. Hum Mutat 1998; 12: 1–3.

3. Castellani C, Cuppens H, Macek Jr M et al: Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008; 7: 179–196.

4. Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L : Double mutant alleles: are they rare? Hum Mol Genet 1995; 4: 1169–1171.

5. Fanen P, Clain J, Labarthe R et al: Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis. FEBS Lett 1999; 452: 371–374.

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