𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey–Hailey disease

✍ Scribed by S-C. Chao; Y-M. Tsai; M-H. Yang

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
233 KB
Volume
146
Category
Article
ISSN
0007-0963

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation analysis of Parkin, PINK1, DJ-1
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism
✍ Ji-Feng Guo; Bin Xiao; Bing Liao; Xue-Wei Zhang; Li-Luo Nie; Yu-Hu Zhang; Lu She 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 1 views

## Abstract Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the __Parkin__, __PINK1__, __DJ‐1__, and __ATP13A2__ genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and

Mutation analysis of the MEN1 gene in Be
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
✍ Jacques Poncin; Roger Abs; Brigitte Velkeniers; Maryse Bonduelle; Marc Abramowic 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 2 views

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned and shown to code for a 610-amino acid protein of enigmatic func

Mutation analysis of the M6b gene in pat
Mutation analysis of the M6b gene in patients with Rett syndrome
✍ Narayanan, Vinodh; Olinsky, Shari; Dahle, Elizabeth; Naidu, Sakkubai; Zoghbi, Hu 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b bet