数据库简述：GALNS Mutation Database
数据库主要信息：GALNS is a molecular testing locus-specific database for N-acetylgalactosamine-6-sulfatase (GALNS) (MPS IVA, Morquio A, Morquio A Syndrome, Mucopolysaccharidosis IVA, OMIM ID #253000). The purpose of this LSDB is to provide locus-specific information on mutations identified in the gene GALNS. Mutations will be curated as either pathogenic, non-pathogenic or as variants of unknown significance. If the mutation reported in this database has been described in a publication, the pubmed ID will be provided. Unpublished mutations can be submitted, however, will be listed as unpublished mutation. Mutations that you submit will not appear in the database until our curators evaluate them.
BioMarin Pharmaceutical Inc
BioMarin Pharmaceutical Inc., Novato, California
Contact name (PI/Team):
Contact email (PI/Helpdesk):