取消所有 SLX4 突变的休假：一种新的范可尼贫血亚型，FANCP 的鉴定。

Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP.

机构信息

Department of Medical Genetics, Center for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z4H4, Canada.

出版信息

Clin Genet. 2011 Jul;80(1):28-30. doi: 10.1111/j.1399-0004.2011.01679.x. Epub 2011 Apr 25.

DOI:10.1111/j.1399-0004.2011.01679.x

PMID:21476996

Abstract

SLX4, a coordinator of structure-specific endo-nucleases, is mutated in a new Fanconi anemia subtype Stoepker et al. (2011) Nature Genetics 43:138-141. Mutations of the SLX4 gene in Fanconi anemia Kim et al. (2011) Nature Genetics 43:142-146.

摘要

SLX4 是结构特异性内切酶的协调蛋白，在一种新的范可尼贫血亚型中发生突变 Stoepker 等人。（2011 年）《自然遗传学》43:138-141。范可尼贫血中 SLX4 基因突变 Kim 等人。（2011 年）《自然遗传学》43:142-146。