亨廷顿舞蹈症极早发型的父系遗传。
Paternal line of transmission in chorea of Huntington with very early onset.
作者信息
Navarrete C, Martinez I, Salamanca F
机构信息
Unit of Investigation in Human Genetics, National Medical Center, Instituto Mexicano del Seguro Social, México, D.F.
出版信息
Genet Couns. 1994;5(2):175-8.
PMID:7917128
Abstract
Very early onset of chorea of Huntington is described in two sibs who have received the mutated gene from their affected father and grandfather. The consequences and the molecular mechanisms of germinal genomic imprinting and the amplification of the expanded CAG trinucleotide repeat are discussed.
摘要
在两名从患病父亲和祖父那里继承了突变基因的同胞中，描述了亨廷顿舞蹈症的极早发症状。文中讨论了生殖系基因组印记以及扩展的CAG三核苷酸重复序列扩增的后果和分子机制。
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