Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation
β Scribed by Pollak, Martin R.; Brown, Edward M.; Estep, Herschel L.; McLaine, Peter N.; Kifor, Olga; Park, Ji; Hebert, Steven C.; Seidman, Christine E.; Seidman, J. G.
- Book ID
- 109918582
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 441 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1061-4036
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Congenital cataracts (CCs) are clinically and genetically heterogeneous. Mutations in the same gene may lead to CCs differing in inheritance, morphology and severity. Loci for autosomal dominant posterior polar CC and total CC have both been mapped to the chromosomal 1p36 region harboring the EPHA2
Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of