A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia-Reference-Cited by-同舟云学术

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A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

Published:2009-08-20 Issue:8 Volume:114 Page:1718-1719
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Aróstegui Juan I.¹,de Toledo José Sánchez²,Pascal Mariona³,García Carlos⁴,Yagüe Jordi⁵,Díaz de Heredia Cristina²

Affiliation:

1. Servicio de Inmunología, Centro de Diagnóstico Biomédico, Hospital Clínic, IDIBAPS, Barcelona, Spain

2. Servicio de Hematologia y Oncología Pediátrica, Hospital Infantil Vall d'Hebron, Barcelona, Spain

3. Servicio de Inmunología, Centro de Diagnóstico Biomédico, Hospital Clinic, IDIBAPS, Barcelona, Spain

4. ABS Les Borges del Camp, Tarragona, Spain

5. Servicio de Immunología, Centro de Diagnóstico Biomédico, Hospital Clinic, IDIBAPS, Barcelona, Spain

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/114/8/1718/1323899/zh803409001718.pdf

Reference9 articles.

1. Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis.;Berliner;Blood,2008

2. Genetic and molecular diagnosis of severe congenital neutropenia.;Ward;Curr Opin Hematol,2009

3. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.;Horwitz;Nat Genet,1999

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

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

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1. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature;Endocrine, Metabolic & Immune Disorders - Drug Targets;2021-09

2. Hypothesis: A Novel Neuroprotective Role for Glucose-6-phosphatase (G6PC3) in Brain—To Maintain Energy-Dependent Functions Including Cognitive Processes;Neurochemical Research;2020-08-19

3. CDG and immune response: From bedside to bench and back;Journal of Inherited Metabolic Disease;2019-06-25

4. Periodontal and other oral manifestations of immunodeficiency diseases;Oral Diseases;2016-10-10

5. A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear;Journal of Pediatric Hematology/Oncology;2016-05

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