Clinical phenotype associated with the arg141 his mutation in the X-linked retinoschisis gene.
Park
J H
JH
Ott
S H
SH
Wang
X
X
Appukuttan
B
B
Patel
R J
RJ
Van Boemel
G B
GB
Stout
J T
JT
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
D005136:Eye Proteins; C108726:RS1 protein, human