期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 15, 页码 1775-1777出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.31816
关键词
senetaxin; aprataxin; helicase
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder associated with mutations in the Senataxin (SETX) gene. Clinical manifestations (ataxia, peripheral neuropathy, oculomotor apraxia) of this disease have previously been limited to the nervous system. We describe a patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure, (c) 2007 Wiley-Liss, Inc.
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