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PBCRA1 progressive bifocal chorioretinal atrophy 1 [ Homo sapiens (human) ]

Gene ID: 7948, updated on 2-Oct-2019

Summary

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Gene symbol
PBCRA1
Gene description
progressive bifocal chorioretinal atrophy 1
Primary source
MIM:600790
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRAPB; PBCRA

Genomic context

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Location:
6q

Bibliography

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Related articles in PubMed

  1. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Kelsell RE, et al. Hum Mol Genet, 1995 Sep. PMID 8541856
  2. Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). Gehrig A, et al. J Med Genet, 1998 Aug. PMID 9719369, Free PMC Article
  3. Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies. Felbor U, et al. Cytogenet Cell Genet, 1998. PMID 9691169

GeneRIFs: Gene References Into Functions

Phenotypes

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progressive bifocal chorioretinal atrophy 1

General gene information

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Markers

Property

  • phenotype only

Gene LinkOut

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Molecular Biology Databases