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A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.
2009
Min-Yu Lan
Shyh Jer Lin
Ying-Fa Chen
Cheng-Huei Peng
Yu-Fan Liu
Keywords:
Missense mutation
Ceramide
Phosphorylcholine
Type B Niemann-Pick Disease
Immunology
Diabetes mellitus
SMPD1 Gene
Nonsense mutation
Medicine
Molecular biology
Internal medicine
Cancer research
Hematology
Correction
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