The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant-Reference-Cited by-同舟云学术

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The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant

Published:2023-09 Issue: Volume: Page:
ISSN:2468-6530
Container-title:Ophthalmology Retina
language:en
Short-container-title:Ophthalmology Retina

Author:

Bianco Lorenzo^ORCID,Arrigo Alessandro^ORCID,Antropoli Alessio^ORCID,Del Fabbro Sebastiano,Mauro Luca^ORCID,Pina Adelaide,Bandello Francesco^ORCID,Battaglia Parodi Maurizio

Publisher

Elsevier BV

Subject

Ophthalmology

Reference39 articles.

1. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best’s disease);Marquardt;Hum Mol Genet,1998

2. Identification of the gene responsible for Best macular dystrophy;Petrukhin;Nat Genet,1998

3. Bestrophin, the product of the best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium;Marmorstein;Proc Nat Acad Sci USA,2000

4. Bestrophin 1 and retinal disease;Johnson;Prog Retin Eye Res,2017

5. Biallelic mutation of BEST1 causes a distinct retinopathy in humans;Burgess;Am J Hum Genet,2008

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