Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype-Reference-Cited by-同舟云学术

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Published:2007-05 Issue:5 Volume:80 Page:895-910
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kalb Reinhard,Neveling Kornelia,Hoehn Holger,Schneider Hildegard,Linka Yvonne,Batish Sat Dev,Hunt Curtis,Berwick Marianne,Callén Elsa,Surrallés Jordi,Casado José A.,Bueren Juan,Dasí Ángeles,Soulier Jean,Gluckman Eliane,Zwaan C. Michel,van Spaendonk Rosalina,Pals Gerard,de Winter Johan P.,Joenje Hans,Grompe Markus,Auerbach Arleen D.,Hanenberg Helmut,Schindler Detlev

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference60 articles.

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3. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer;Reid;Nat Genet,2007

4. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2;Xia;Nat Genet,2007

5. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia;Levran;Nat Genet,2005

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