Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Bernal
S
S
Servei de Genética, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
Calaf
M
M
Garcia-Hoyos
M
M
Garcia-Sandoval
B
B
Rosell
J
J
Adan
A
A
Ayuso
C
C
Baiget
M
M
D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012177:Retinol-Binding Proteins / Q000235:genetics*; D054840:Retinol-Binding Proteins, Cellular
C448939:CRB1 protein, human; D005136:Eye Proteins; C089754:G protein-coupled receptor RGR; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C518456:RBP1 protein, human; D011956:Receptors, Cell Surface; D043562:Receptors, G-Protein-Coupled; D012177:Retinol-Binding Proteins; D054840:Retinol-Binding Proteins, Cellular; D004247:DNA