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Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

BACKGROUND: Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce. METHODS: A cohort of 27 Chinese patients diagnosed with acid sphingomyelinase deficiency, within the past five years, were colle...

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Detalles Bibliográficos
Autores principales:	Zhang, Huiwen, Wang, Yu, Gong, Zhuwen, Li, Xiaoyan, Qiu, Wenjuan, Han, Lianshu, Ye, Jun, Gu, Xuefan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566977/ https://www.ncbi.nlm.nih.gov/pubmed/23356216 http://dx.doi.org/10.1186/1750-1172-8-15

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