Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein
β 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.
π SIMILAR VOLUMES
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
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