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2019 | 1 |
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Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Hum Mutat. 2019 May;40(5):578-587. doi: 10.1002/humu.23715. Epub 2019 Feb 14.
Hum Mutat. 2019.
PMID: 30710461
The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14-16.2 that overlaps the North Carolina macular dystrophy (NCMD) locus MCDR1. ...
The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromo …
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, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, Weber BH.
Gehrig A, et al.
J Med Genet. 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641.
J Med Genet. 1998.
PMID: 9719369
Free PMC article.
By genetic linkage analysis, several retinal dystrophies including one form of autosomal dominant Stargardt-like macular dystrophy (STGD3), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1) have previously …
By genetic linkage analysis, several retinal dystrophies including one form of autosomal dominant Stargardt-like macular dystrophy (STGD3), …
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