A second-site mutation in the initiation codon ofWAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient-Reference-Cited by-同舟云学术

A second-site mutation in the initiation codon ofWAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient

Published:2006 Issue:4 Volume:27 Page:370-375
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Du Wei,Kumaki Satoru,Uchiyama Toru,Yachie Akihiro,Yeng Looi Chung,Kawai Shin,Minegishi Masayoshi,Ramesh Narayanaswamy,Geha Raif S.,Sasahara Yoji,Tsuchiya Shigeru

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. A Case of Wiskott-Aldrich Syndrome With Dual Mutations in Exon 10 of the WASP Gene: An Additional De Novo One-Base Insertion, Which Restores Frame Shift Due to an Inherent One-Base Deletion, Detected in the Major Population of the Patient's Peripheral Blood Lymphocytes

2. Spontaneous In Vivo Reversion of an Inherited Mutation in the Wiskott-Aldrich Syndrome

3. Involvement of the Wiskott-Aldrich syndrome protein and other actin regulatory adaptors in T cell activation

4. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

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3. A Novel Mutation in A Patient With Wiskott-Aldrich Syndrome;Turkish Journal of Hematology;2020-01-29

4. The phenomenon of reverse mutation in a patient with Wiskott–Aldrich syndrome;Pediatric Hematology/Oncology and Immunopathology;2019-09-13

5. Whole-Genome Sequencing Identifies a Novel Variation of WAS Gene Coordinating With Heterozygous Germline Mutation of APC to Enhance Hepatoblastoma Oncogenesis;Frontiers in Genetics;2018-12-19