Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility-Reference-Cited by-同舟云学术

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Published:2016-08-22 Issue: Volume: Page:ddw282
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Bedoni Nicola,Haer-Wigman Lonneke,Vaclavik Veronika,Tran Viet H.,Farinelli Pietro,Balzano Sara,Royer-Bertrand Beryl,El-Asrag Mohammed E.,Bonny Olivier,Ikonomidis Christos,Litzistorf Yan,Nikopoulos Konstantinos,Yioti Georgia G.,Stefaniotou Maria I.,McKibbin Martin,Booth Adam P.,Ellingford Jamie M.,Black Graeme C.,Toomes Carmel,Inglehearn Chris F.,Hoyng Carel B.,Bax Nathalie,Klaver Caroline C.W.,Thiadens Alberta A.,Murisier Fabien,Schorderet Daniel F.,Ali Manir,Cremers Frans P.M.,Andréasson Sten,Munier Francis L.,Rivolta Carlo

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference48 articles.

1. Cone rod dystrophies

2. Progressive Cone-Rod Degeneration

3. Progressive Cone Degeneration, Dominantly Inherited

4. Causes and consequences of inherited cone disorders

5. Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

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