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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Liu, Shuang, Zhang, Weimin, Shi, Huiping, Yao, Fengxia, Wei, Min, Qiu, Zhengqing
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2016
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5035076/
https://ncbi.nlm.nih.gov/pubmed/27662472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0163204
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