Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia-Reference-Cited by-同舟云学术

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

Published:2012-04 Issue:4 Volume:160 Page:679-683.e2
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Boztug Kaan,Rosenberg Philip S.,Dorda Marie,Banka Siddharth,Moulton Thomas,Curtin Julie,Rezaei Nima,Corns John,Innis Jeffrey W.,Avci Zekai,Tran Hung Chi,Pellier Isabelle,Pierani Paolo,Fruge Rachel,Parvaneh Nima,Mamishi Setareh,Mody Rajen,Darbyshire Phil,Motwani Jayashree,Murray Jennie,Buchanan George R.,Newman William G.,Alter Blanche P.,Boxer Laurence A.,Donadieu Jean,Welte Karl,Klein Christoph

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference34 articles.

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2. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia;Dale;Blood,2000

3. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease);Klein;Nat Genet,2007

4. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2;Person;Nat Genet,2003

5. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia;Devriendt;Nat Genet,2001

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