A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family.
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
Wei-
W
De Lin
Chung-Hsing
CH
Wang
I-Ching
IC
Chou
Fuu-Jen
FJ
Tsai
D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D019204:GTP-Binding Proteins; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013624:Taiwan
D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C072178:RP2 protein, human; C099929:RPGR protein, human; D019204:GTP-Binding Proteins