Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation.
作者信息
Kobayashi Masayuki, Yokoyama Kazuaki, Shimizu Eigo, Yusa Nozomi, Ito Mika, Yamaguchi Rui, Imoto Seiya, Miyano Satoru, Tojo Arinobu
机构信息
Division of Molecular Therapy, Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
Department of Hematology/Oncology, Research Hospital, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
出版信息
Ann Hematol. 2018 Feb;97(2):367-369. doi: 10.1007/s00277-017-3134-3. Epub 2017 Sep 27.
PMID:28956125
Abstract
摘要
Zotero 插件