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
✦ LIBER ✦
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family
✍ Scribed by Faletra, Flavio; d’Adamo, Adamo Pio; Pensiero, Stefano; Athanasakis, Emmanouil; Catalano, Dario; Bruno, Irene; Gasparini, Paolo
- Book ID
- 118061422
- Publisher
- Informa plc
- Year
- 2012
- Tongue
- English
- Weight
- 844 KB
- Volume
- 34
- Category
- Article
- ISSN
- 1381-6810
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