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Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

✍ Scribed by Ivanka Sinigerska; David Chandler; Vijesh Vaghjiani; Irfet Hassanova; Rebecca Gooding; Amelia Morrone; Ivo Kremensky; Luba Kalaydjieva


Book ID
116987807
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
138 KB
Volume
88
Category
Article
ISSN
1096-7192

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GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the