A novel missense mutation of theSMPD1gene in a Taiwanese patient with type B Niemann–Pick disease
✍ Scribed by Min-Yu Lan; Shyh-Jer Lin; Ying-Fa Chen; Cheng-Huei Peng; Yu-Fan Liu
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 144 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0939-5555
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📜 SIMILAR VOLUMES
A novel single base pair deletion in the acid sphingomyelinase (ASM) gene ( 677delT in the cDNA) was identified in 12 Israeli Arab families with Niemann-Pick disease (NPD) type A. This deletion creates a premature stop codon which explains the complete deficiency of ASM activity in these patients an
Niemann-Pick disease (NPD) types A/B are both caused by a deficiency of lysosomal acid sphingomyelinase and display autosomal recessive inheritance. These two types of the disease were described according to the presence (type A) or absence (type B) of neurological symptoms. We present a molecular a