The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
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DOI:
10.1038/71626
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发表时间:
2000-01-01
期刊:
影响因子:
30.8
通讯作者:
Joenje, H
Joenje, H
中科院分区:
生物学1区
文献类型:
--
作者:
de Winter, JP;Rooimans, MA;Joenje, H

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范可尼贫血是一种常染色体隐性遗传的染色体不稳定综合征。我们用互补克隆的方法鉴定了Fanconi贫血F组患者的突变基因。FANCF不含内含子,编码与原核RNA结合蛋白ROM同源的多肽。
Fanconi anaemia (FA) is a chromosomal instability syndrome with autosomal recessive inheritance. We have identified the gene mutated in Fanconi anaemia group F patients by complementation cloning. FANCF has no introns and encodes a polypeptide with homology to the prokaryotic RNA binding protein ROM.