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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,...

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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

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