Loss of N-Acetylglucosamine-1-Phosphotransferase Gamma Subunit Due to Intronic Mutation in Gnptg Causes Mucolipidosis Type Iii Gamma: Implications for Molecular and Cellular Diagnostics

AuthID
 P-016-016
6
Author(s)
Pohl S.
·
Castrichini M.
·
Müller-Loennies S.
·
Muschol N.
·
Braulke T.
Tipo de Documento
Article
Year published
2010
Publicado
in American Journal of Medical Genetics, Part A, ISSN: 15524825
Volume: 152, Número: 1, Páginas: 124-132 (8)
Indexing
Scopus®
Crossref®22
Pubmed®
Google Scholar®
Publication Identifiers
Pubmed: 20034096
SCOPUS: 2-s2.0-75149142903
Source Identifiers
ISSN: 15524825
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