Galactosialidosis: review and analysis of CTSA gene mutations.

Caciotti, Anna

Galactosialidosis: review and analysis of CTSA gene mutations. [electronic resource] - Orphanet journal of rare diseases Aug 2013 - 114 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

1750-1172

10.1186/1750-1172-8-114 doi


Cathepsin A--chemistry
Computational Biology--methods
Genetic Association Studies
Lysosomal Storage Diseases--diagnosis
Mutation
Mutation, Missense
Sequence Analysis, DNA