Literature DB >> 8595430

Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.

S P Kwan1, T L Hagemann, R M Blaese, A Knutsen, F S Rosen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 8595430     DOI： 10.1093/hmg/4.10.1995

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


× No keyword cloud information.
  5 in total

Review 1.  The Wiskott-Aldrich syndrome.

Authors:  H D Ochs
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

2.  Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.

Authors:  Eun-Kyeong Jo; Takeshi Futatani; Hirokazu Kanegane; Takeo Kubota; Young-Ho Lee; Jin-A Jung; Chang-Hwa Song; Jeong-Kyu Park; Shigeaki Nonoyama; Toshio Miyawaki
Journal:  Int J Hematol       Date:  2003-07       Impact factor: 2.490

Review 3.  The Wiskott-Aldrich syndrome.

Authors:  H D Ochs
Journal:  Springer Semin Immunopathol       Date:  1998

4.  Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses.

Authors:  Jordan S Orange; Narayanaswamy Ramesh; Eileen Remold-O'Donnell; Yoji Sasahara; Louise Koopman; Michael Byrne; Francisco A Bonilla; Fred S Rosen; Raif S Geha; Jack L Strominger
Journal:  Proc Natl Acad Sci U S A       Date:  2002-08-12       Impact factor: 11.205

5.  Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.

Authors:  Young-Ho Lee; Yeon-Jung Lim; Su-Ah Shin; Chang-Hwa Song; Eun-Kyeong Jo; Jin-A Jung; Ha-Baik Lee
Journal:  J Korean Med Sci       Date:  2009-07-30       Impact factor: 2.153
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.