Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes

Ophthalmic Genet. 2018 Jan-Feb;39(1):135-136. doi: 10.1080/13816810.2017.1318928. Epub 2017 Jul 20.

Authors

John Pei-Wen Chiang¹, Hongyu Luo¹, Jie Duan¹, Josef Ekstein², Yoel Hirsch²

Affiliations

¹ a Molecular Vision Laboratory , Hillsboro , Oregon , USA.
² b Dor Yeshorim, The Committee of Preventing Jewish Genetic Diseases , Brooklyn , New York , USA.

PMID: 28726569
DOI: 10.1080/13816810.2017.1318928

No abstract available

MeSH terms

Calcium Channels, L-Type / genetics*
Founder Effect*
Genetic Carrier Screening
Genetic Predisposition to Disease
Germ-Line Mutation*
Humans
Jews / genetics*
Polymerase Chain Reaction
Protein Serine-Threonine Kinases / genetics
Retinal Dystrophies / genetics*
Sequence Deletion*
TRPM Cation Channels / genetics*

Substances

CACNA2D4 protein, human
Calcium Channels, L-Type
TRPM Cation Channels
TRPM1 protein, human
Protein Serine-Threonine Kinases
MAK protein, human