一名成年发病型克拉伯病患者GALC基因的多个突变
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
作者信息
Luzi P, Rafi M A, Wenger D A
机构信息
Department of Medicine, Jefferson Medical College, Philadelphia, PA 19107, USA.
出版信息
Ann Neurol. 1996 Jul;40(1):116-9. doi: 10.1002/ana.410400119.
PMID:8687180
Abstract
A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms, and two unique mutations.
摘要
一名53岁男性在8年前被诊断患有球状细胞脑白质营养不良（GLD，克拉伯病），原因是他严重缺乏半乳糖脑苷脂酶（GALC）活性。他的GALC基因的两个拷贝上发现有八个核苷酸变化，其中两个在引导序列中，四个被认为是多态性，还有两个是独特的突变。
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