Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression | Zendy

Daniel R. Evans | Zendy; Jane S. Green | Zendy; Joanne Katz | Zendy; Jeremy Schwartzentruber | Zendy; Jacek Majewski | Zendy; Chandree L. Beaulieu | Zendy; Wen Qin | Zendy; Christian R. Marshall | Zendy; Tara Paton | Zendy; Nicole M. Roslin | Zendy; Andrew D. Paterson | Zendy; Somayyeh Fahiminiya | Zendy; Justin French | Zendy; Kym M. Boycott | Zendy; Michael O. Woods | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

Author(s) -

Daniel R. Evans,

Jane S. Green,

Joanne Katz,

Jeremy Schwartzentruber,

Jacek Majewski,

Chandree L. Beaulieu,

Wen Qin,

Christian R. Marshall,

Tara Paton,

Nicole M. Roslin,

Andrew D. Paterson,

Somayyeh Fahiminiya,

Justin French,

Kym M. Boycott,

Michael O. Woods

Publication year - 2017

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-20864

Subject(s) - genetics , exome sequencing , exome , biology , retinitis pigmentosa , candidate gene , abca4 , sanger sequencing , breakpoint , genetic linkage , copy number variation , locus (genetics) , gene , mutation , chromosome , phenotype , genome

Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology of autosomal recessive RP (arRP) in a large kindred with 5 affected family members, who reside on the island of Newfoundland, Canada.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research