title: 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.
authors.affiliation: Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: D
authors.initials: D
authors.lastname: Valverde
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: R
authors.initials: R
authors.lastname: Seminago
authors.forename: E
authors.initials: E
authors.lastname: del Rio
authors.forename: B
authors.initials: B
authors.lastname: García-Sandoval
authors.forename: T
authors.initials: T
authors.lastname: del Rio
authors.forename: M
authors.initials: M
authors.lastname: Bayés
authors.forename: S
authors.initials: S
authors.lastname: Balcells
authors.forename: A
authors.initials: A
authors.lastname: Martínez
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: 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
chemical_list: D046911:Macromolecular Substances; D010727:Phosphoric Diester Hydrolases; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human