期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 67, 期 5, 页码 1306-1308出版社
UNIV CHICAGO PRESS
DOI: 10.1016/S0002-9297(07)62959-0
关键词
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资金
- NHLBI NIH HHS [HL50131] Funding Source: Medline
Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups, Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE), FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals.
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