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.

Article Details

Citation

Valverde D, Baiget M, Seminago R, del Rio E, Garcia-Sandoval B, del Rio T, Bayes M, Balcells S, Martinez A, Grinberg D, Ayuso C

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.

Hum Mutat. 1996;8(4):393-4.

PubMed ID
8956055 [ View in PubMed
]
Abstract

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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaP35913Details