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PMID:9425888

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Citation

Martínez-Mir, A, Paloma, E, Allikmets, R, Ayuso, C, del Rio, T, Dean, M, Vilageliu, L, Gonzàlez-Duarte, R and Balcells, S (1998) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat. Genet. 18:11-2

Abstract

No abstract in PubMed

Links

PubMed Online version:10.1038/ng0198-11

Keywords

ATP-Binding Cassette Transporters/genetics; Female; Frameshift Mutation; Genes, Recessive; Homozygote; Humans; Macular Degeneration/genetics; Male; Pedigree; Retinitis Pigmentosa/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:ABCA4

involved_in

GO:0007601: visual perception

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.