Resources

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

  https://www.ncbi.nlm.nih.gov/pubmed/29976937

 

Considering Genomic Research?

    Fields marked in * is mandatory to fill
     
     
     

    2024 © MedGenome • All Rights Reserved
    Request a Quote