A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia.
Forsythe
P
P
Maguire
A
A
Fujita
R
R
Moen
C
C
Swaroop
A
A
Bennett
J
J
D000293:Adolescent; D000368:Aged; D002675:Child, Preschool; D015794:Choroideremia / Q000235:genetics*; D018388:Codon, Terminator; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000175:diagnosis
D018388:Codon, Terminator