To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the __CRYGD__ gene revealed a c.127T>C transition, which resulted in a substitu
A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism
β Scribed by Zheng Liu; Yuanming Sun; Qingming Dong; Mingliang He; Christopher H. K. Cheng; Feiyue Fan
- Book ID
- 106252304
- Publisher
- Nature Publishing Group
- Year
- 2008
- Tongue
- English
- Weight
- 238 KB
- Volume
- 53
- Category
- Article
- ISSN
- 1435-232X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical exam
Retinitis pigmentosa (RP) is the most common inherited retinal degeneration. A subset of patients with autosomal dominant (ad) RP carry a mutation in the rhodopsin gene. We have identified a new missense rhodopsin mutation. namely A346P, which cosegregates with the disease phenotype in one Spanish f