Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation
✍ Scribed by Aykut, A.; Karaca, E.; Onay, H.; Kalkan Ucar, S.; Coker, M.; Cogulu, O.; Ozkinay, F.
- Book ID
- 123449148
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 145 KB
- Volume
- 526
- Category
- Article
- ISSN
- 0378-1119
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📜 SIMILAR VOLUMES
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
Niemann-Pick disease (NPD) results from the deficiency of lysosomal acid sphingomyelinase (SMPD1). To date, out of more than 70-disease associated alleles only a few of them have a significant frequency in various ethnic groups. In contrast, the remainder of the mutations are rare or private. In thi