期刊
BLOOD CELLS MOLECULES AND DISEASES
卷 35, 期 3, 页码 345-347出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bcmd.2005.08.008
关键词
spherocytosis; mutation; ankyrin; erythrocyte; membrane
类别
资金
- NIDDK NIH HHS [DK062039] Funding Source: Medline
The primary defect in the hereditary spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. Mutation of the erythrocyte membrane protein ankyrin are the most common cause of typical, dominant HS. Ankyrin mutations also cause nondominant spherocytosis due to ankyrin gene promoter or de novo mutations. In most cases, HS-related ankyrin mutations are private. A summary of reported HS-associated ankyrin gene mutations is provided in this report. (c) 2005 Elsevier Inc. All rights reserved.
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