Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations

Mucolipidosis II and III alpha/beta are autosomal recessive diseases caused by mutations in the GNPTAB gene which encodes the α and β subunits of the N-acetylglucosamine-1-phosphotransferase. Clinically, mucolipidosis II (MLII) is characterized by severe developmental delay, coarse facial features,...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Shuang, Zhang, Weimin, Shi, Huiping, Yao, Fengxia, Wei, Min, Qiu, Zhengqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035076/
https://www.ncbi.nlm.nih.gov/pubmed/27662472
http://dx.doi.org/10.1371/journal.pone.0163204

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035076/
https://www.ncbi.nlm.nih.gov/pubmed/27662472
http://dx.doi.org/10.1371/journal.pone.0163204

Ejemplares similares