Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.
Corton
M
M
Blanco
M J
MJ
Torres
M
M
Sanchez-Salorio
M
M
Carracedo
A
A
Brion
M
M
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D003241:Consanguinity; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D051379:Mice; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
D005136:Eye Proteins; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C410522:PDE6A protein, human