𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia

✍ Scribed by GOTO-OMOTO, SATOSHI; HAYASHI, TAKAAKI; GEKKA, TAMAKI; KUBO, AKIKO; TAKEUCHI, TOMOKAZU; KITAHARA, KENJI


Book ID
121324760
Publisher
Cambridge University Press
Year
2006
Tongue
English
Weight
474 KB
Volume
23
Category
Article
ISSN
0952-5238

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel compound heterozygous mutations in
✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 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