𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein

✍ Scribed by Allen, R C; Russell, S R; Streb, L M; Alsheikheh, A; Stone, E M


Book ID
110035925
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
242 KB
Volume
20
Category
Article
ISSN
0950-222X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A novel mutation in the Norrie disease g
✍ Sandra Ott; Reshma J. Patel; Binoy Appukuttan; Xiaoguang Wang; J.Timothy Stout πŸ“‚ Article πŸ“… 2000 πŸ› Elsevier Science 🌐 English βš– 69 KB
Norrie disease gene mutation in a large
✍ Heidi L. Rehm; Gustavo A. GutiΓ©rrez-Espeleta; Rafael Garcia; Gerardo JimΓ©nez; Um πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 205 KB πŸ‘ 2 views

A large Costa Rican kindred has been identified with 15 males affected with congenital blindness, progressive bearing loss, and venous insufficiency. Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural heari

A novel splice site mutation in the TRIM
✍ P. Jagiello; C. Hammans; S. Wieczorek; L. Arning; A. Stefanski; H. Strehl; J.T. πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 321 KB

Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located i