Title : Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Pub. Date : 2018 Dec

PMID : 30267299






3 Functional Relationships(s)
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1 GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by the deficiency of beta-galactosidase activity, precisely due to mutations in the GLB1 gene. G(M1) Ganglioside galactosidase beta 1 Homo sapiens
2 To explore the clinical and molecular characteristics of GM1 gangliosidosis patients from China, GLB1 gene were analyzed in 11 probands with GM1 gangliosidosis by exploiting direct Sanger-sequencing. G(M1) Ganglioside galactosidase beta 1 Homo sapiens
3 To explore the clinical and molecular characteristics of GM1 gangliosidosis patients from China, GLB1 gene were analyzed in 11 probands with GM1 gangliosidosis by exploiting direct Sanger-sequencing. G(M1) Ganglioside galactosidase beta 1 Homo sapiens