Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients

Nature Scientific reports, Vol. 8, Issue 1, Pages 10176, 2018

PMID: 29976937

Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising eight affected and twelve unaffected individuals.

Read More


Considering Genomic Research?

    Fields marked in * is mandatory to fill

    2024 © MedGenome • All Rights Reserved
    Request a Quote