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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Detalhes bibliográficos
Main Authors: Zhang, Huiwen, Wang, Yu, Gong, Zhuwen, Li, Xiaoyan, Qiu, Wenjuan, Han, Lianshu, Ye, Jun, Gu, Xuefan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3566977/
https://ncbi.nlm.nih.gov/pubmed/23356216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-15
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