Non-allelic mutations in X-linked retinitis pigmentosa.
Using RFLP studies, the disease locus in two X-linked retinitis pigmentosa families was found to be centromeric to DXS7 in one family and telomeric to DXS7 in another, suggesting non-allelic heterogeneity.
Chen
J D
JD
Division of Pathology, Prince of Wales Hospital, Randwick, NSW, Australia.
Dickinson
P
P
Gray
R
R
Constable
I
I
Sheffield
L
L
Denton
M J
MJ
D015139:Blotting, Southern; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA