Retinitis pigmentosa 49; RP49

Disease ID:826
Name:Retinitis pigmentosa 49; RP49
Associated with:1 target
Synonyms
Retinitis pigmentosa
Database Links
Disease Ontology: DOID:10584
OMIM: 613756
Orphanet: ORPHA791

Targets

CNGA1
References:  1,4-5
Mutations:  CNGA1 is associated with 8 mutation. Click here for details

Ligands

No ligand related data available for Retinitis pigmentosa 49; RP49

References

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1. Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW. (1995) Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. U.S.A., 92 (22): 10177-81. [PMID:7479749]

2. González-del Pozo M, Borrego S, Barragán I, Pieras JI, Santoyo J, Matamala N, Naranjo B, Dopazo J, Antiñolo G. (2011) Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS ONE, 6 (12): e27894. [PMID:22164218]

3. Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M et al.. (2008) Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study. J. Med. Genet., 45 (7): 465-72. [PMID:18310263]

4. Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S. (2002) Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. J. Med. Genet., 39 (10): E66. [PMID:12362048]

5. Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF. (2004) Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. Mol. Vis., 10: 884-9. [PMID:15570217]