Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?-Reference-Cited by-同舟云学术

Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?

Published:2012-01-25 Issue:7 Volume:171 Page:1039-1046
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Hentschel Julia,Riesener Gabriele,Nelle Heike,Stuhrmann Manfred,Schöner Anja,Sommerburg Olaf,Fritzsching Eva,Mall Marcus A.,von Eggeling Ferdinand,Mainz Jochen G.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-012-1672-1.pdf

Reference26 articles.

1. Adzhubei L, Schmidt S, Peshkin L, Ramensky V, Gerasimova A, Bork P, Kondrashov A, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

2. ASSP. http://es.embnet.org/~mwang/assp.html

3. Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C, Dallapiccola B (1993) Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. Hum Hered 43:295–300

4. CF Mutation Database. http://www.genet.sickkids.on.ca

5. D’Apice MR, Gambardella S, Russo S, Lucidi V, Nardone AM, Pietropolli A, Novelli G (2004) Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism. Prenat Diagn 24:981–983

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