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Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis

✍ Scribed by Başak Çeltikçi; Halil İbrahim Aydın; Serap Sivri; Müjgan Sönmez; Meral Topçu; Hatice Asuman Özkara

Book ID
118431689
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
398 KB
Volume
45
Category
Article
ISSN
0009-9120

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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