A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.
Lan
Min-Yu
MY
Lin
Shyh-Jer
SJ
Chen
Ying-Fa
YF
Peng
Cheng-Huei
CH
Liu
Yu-Fan
YF
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
D013108:Sphingomyelin Phosphodiesterase