𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A compound heterozygous mutation ofCYP27A1gene in a Taiwanese patient with cerebrotendinous xanthomatosis

✍ Scribed by Wen-Chau Chen; Kuo-Chen Wu; Chih-Hsiung Hu; Tai-Chang Chern; I-Ming Jou

Publisher
Springer Japan
Year
2011
Tongue
English
Weight
360 KB
Volume
16
Category
Article
ISSN
0949-2658

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cathepsin C gene: First compound heteroz
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
✍ Luis M. Allende; Miguel A. García-Pérez; Angel Moreno; Alfredo Corell; Miguel Ca 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB

Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a P

Novel compound heterozygous mutations in
Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration
✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete