Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a spanish family with autosomal recessive retinitis pigmentosa

Human Mutation

Volumn 8, Issue 4, 1996, Pages 393-394

  Valverde, D ^a   Baiget, M ^a   Seminago, R ^a   Del Rio, T ^a   Garcia Sandoval, B ^a   Bayes, M ^a   Balcells, S ^a   Martinez, A ^a   Grinberg, D ^a   Ayuso, C ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; EXON; GENE LOCUS; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; CASE REPORT; CONSANGUINITY; ENZYMOLOGY; FEMALE; GENETICS; HOMOZYGOTE; MACROMOLECULE; MALE; POINT MUTATION; RECESSIVE GENE; RETINA ROD; SPAIN;

CYCLIC GMP PHOSPHODIESTERASE; PHOSPHODIESTERASE; PHOSPHODIESTERASE 6;

3',5'-CYCLIC-GMP PHOSPHODIESTERASE; CONSANGUINITY; EXONS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MACROMOLECULAR SUBSTANCES; MALE; PHOSPHORIC DIESTER HYDROLASES; POINT MUTATION; RETINITIS PIGMENTOSA; RODS (RETINA); SPAIN;

EID: 0029657975     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1380080403     Document Type: Article

References (4)

1. Bay M, Giordano M, Balcells S, Grinberg D, Vilageliu LI, Martinez I, Ayuso C, Benitez J, Ramos MA, Chivelet P, Solans T, Valverde D, Anselem S, GoLssens M, Baiget M, Gonzdez‐Duarte R, Besmond C (1995). Homozygous tandem duplication within the gene encoding the p subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum Mutat 5: 228–234.
2. Lolley RN, Farher DB, Rayborn ME, Hollyfield JG (1977). Cyclic GMP accumulation causes degeneration of photoreceptor cells: Simulation of an inherited disease. Science 196: 664–666.
3. Riess O, Noerremoelle A, Weber B, Musarella MA, Hayden MR (1992). The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. Am J Hum Genet 51: 755–762.
4. Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu LI, Bay M, Chivelet P, Besmond C, Gwssens M, González‐Duarte R, Baiget M (1996). A novel mutation in exon 17 of the p subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Hum Genet 97: 35–38.