Article
[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Jan 2003
Cui Yun, Zhao Kan-xing, Wang Li, Wang Qing, Zhang Wei, Chen Wei-ying, Wang Li-ming
Abstract excerpt
OBJECTIVE: To identify the mutation spectrum of phosphodiesterase beta subunit (PDE6B) gene, the incidence in Chinese patients with retinitis pigmentosa (RP) and their clinical phenotypic characteristics. METHODS: Screening of mutations within PDE6B gene was performed using polymerase chain reaction-heteroduplex-single strand conformation polymorphism (PCR-SSCP) and DNA sequence in 35 autosomal recessive (AR) RP...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Adult
- Base Sequence
- China
- Cyclic Nucleotide Phosphodiesterases, Type 6
- DNA
- DNA Mutational Analysis
- Family Health
- Female
- Humans
- Incidence
- Male
- Mutation
- Pedigree
- Phenotype