title: A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.
authors.forename: Min-Yu
authors.initials: MY
authors.lastname: Lan
authors.forename: Shyh-Jer
authors.initials: SJ
authors.lastname: Lin
authors.forename: Ying-Fa
authors.initials: YF
authors.lastname: Chen
authors.forename: Cheng-Huei
authors.initials: CH
authors.lastname: Peng
authors.forename: Yu-Fan
authors.initials: YF
authors.lastname: Liu
mesh_terms: D000328:Adult; D001856:Bone Marrow Examination; D005091:Exons; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D052537:Niemann-Pick Disease, Type B / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*; D013624:Taiwan
chemical_list: D013108:Sphingomyelin Phosphodiesterase