Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands

OBJECTIVES: Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three s...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Cathey, Sara S., Leroy, Jules G., Wood, Tim, Eaves, Karisa, Simensen, Richard J., Kudo, Mariko, Stevenson, Roger E., Friez, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3712854/
https://ncbi.nlm.nih.gov/pubmed/19617216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.067736
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados