Alu-repeat-induced deletions within theNCF2gene causing p67-phox-deficient chronic granulomatous disease (CGD)-Reference-Cited by-同舟云学术

Alu-repeat-induced deletions within theNCF2gene causing p67-phox-deficient chronic granulomatous disease (CGD)

Published:2010-02 Issue:2 Volume:31 Page:151-158
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Gentsch Marcus,Kaczmarczyk Aneta,van Leeuwen Karin,de Boer Martin,Kaus-Drobek Magdalena,Dagher Marie-Claire,Kaiser Petra,Arkwright Peter D.,Gahr Manfred,Rösen-Wolff Angela,Bochtler Matthias,Secord Elizabeth,Britto-Williams Pamela,Saifi Gulam Mustafa,Maddalena Anne,Dbaibo Ghassan,Bustamante Jacinta,Casanova Jean-Laurent,Roos Dirk,Roesler Joachim

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21156/fullpdf

Reference32 articles.

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4. Alu repeats and human disease;Deininger;Mol Genet Metab,1999

5. The active N-terminal region of p67phox. Structure at 1.8 A resolution and biochemical characterizations of the A128V mutant implicated in chronic granulomatous disease;Grizot;J Biol Chem,2001

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