𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease

✍ Scribed by Tsutomu Takahashi; Robert J. Desnick; Goro Takada; Edward H. Schuchman


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
168 KB
Volume
1
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel missense mutation (G209R) in exo
✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af

The identification of five novel mutatio
✍ Clare E. Beesley; Anne H. Child; Magdi H. Yacoub 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 2 views

The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.