title: A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia.
authors.forename: P
authors.initials: P
authors.lastname: Forsythe
authors.forename: A
authors.initials: A
authors.lastname: Maguire
authors.forename: R
authors.initials: R
authors.lastname: Fujita
authors.forename: C
authors.initials: C
authors.lastname: Moen
authors.forename: A
authors.initials: A
authors.lastname: Swaroop
authors.forename: J
authors.initials: J
authors.lastname: Bennett
mesh_terms: 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
chemical_list: D018388:Codon, Terminator