Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease

被引：48

作者：

Luzi, P

Rafi, MA

Wenger, DA

机构：

[1] JEFFERSON MED COLL,DEPT MED,DIV MED GENET,PHILADELPHIA,PA 19107

[2] JEFFERSON MED COLL,DEPT BIOCHEM & MOLEC BIOL,PHILADELPHIA,PA 19107

来源：

ANNALS OF NEUROLOGY | 1996年 / 40卷 / 01期

关键词：

D O I：

10.1002/ana.410400119

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

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页码：116 / 119

页数：4

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