Literature DB >> 28726569

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

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

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Year:  2017        PMID： 28726569     DOI： 10.1080/13816810.2017.1318928

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  1 in total

1.  A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Authors:  Yoel Hirsch; David A Zeevi; Byron L Lam; Sholem Y Scher; Rachel Bringer; Bitya Cherki; Cadina C Cohen; Hagit Muallem; John Pei-Wen Chiang; Madhulatha Pantrangi; Josef Ekstein; Martin M Johansson
Journal:  Hum Genome Var       Date:  2019-09-12
  1 in total

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