Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
Valverde
D
D
Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Baiget
M
M
Seminago
R
R
del Rio
E
E
García-Sandoval
B
B
del Rio
T
T
Bayés
M
M
Balcells
S
S
Martínez
A
A
Grinberg
D
D
Ayuso
C
C
D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics*; D003241:Consanguinity; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D010727:Phosphoric Diester Hydrolases; D017354:Point Mutation; D017948:Retinal Rod Photoreceptor Cells / Q000201:enzymology*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
D046911:Macromolecular Substances; D010727:Phosphoric Diester Hydrolases; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human