Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis-Reference-Cited by-同舟云学术

Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

Published:2005 Issue:3 Volume:25 Page:285-292
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Caciotti Anna,Donati Maria Alice,Boneh Avihu,d'Azzo Alessandra,Federico Antonio,Parini Rossella,Antuzzi Danielas,Bardelli Tiziana,Nosi Daniele,Kimonis Virginia,Zammarchi Enrico,Morrone Amelia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient

2. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure–function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein

3. A common mutation site in the β-galactosidase gene originates in Puerto Rico

4. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

5. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

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