A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.
Tsai
F J
FJ
Department of Medical Genetics, China Medical College Hospital, Taichung, Taiwan. d0704@hpd.cmch.org.tw
Yang
C
C
Wu
J Y
JY
Lin
H J
HJ
Lee
C C
CC
Tsai
C H
CH
D019943:Amino Acid Substitution / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D013624:Taiwan; D014960:X Chromosome / Q000235:genetics*
D018389:Codon, Nonsense; D005136:Eye Proteins; C108726:RS1 protein, human; D008239:Lysine