Niemann-Pick type C (NPC) disease is a rare autosomal-recessive lysosomal storage disease typically accompanied by progressive impairment of nervous system and liver function. Biochemically, the disorder presents with an inhibited egress of cholesterol and glycosphingolipids from endosomal and lysos
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
✍ Scribed by T. Yamamoto; E. Nanba; H. Ninomiya; K. Higaki; H. Zhang; S. Akaboshi; Y. Watanabe; T. Takeshima; K. Inui; S. Okada; A. Tanaka; N. Sakuragawa; G. Millat; M.T. Vanier; J.A. Morris; P.G. Pentchev; K. Ohno
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 171 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0340-6717
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Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o