Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Details

Ressource 1Download: BIB_2211ECCEEC10.P001.pdf (1177.69 [Ko])
State: Public
Version: Author's accepted manuscript
Serval ID
serval:BIB_800C2C1B5285
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Journal
Human molecular genetics
Author(s)
Bedoni N., Haer-Wigman L., Vaclavik V., Tran V.H., Farinelli P., Balzano S., Royer-Bertrand B., El-Asrag M.E., Bonny O., Ikonomidis C., Litzistorf Y., Nikopoulos K., Yioti G.G., Stefaniotou M.I., McKibbin M., Booth A.P., Ellingford J.M., Black G.C., Toomes C., Inglehearn C.F., Hoyng C.B., Bax N., Klaver C.C., Thiadens A.A., Murisier F., Schorderet D.F., Ali M., Cremers F.P., Andréasson S., Munier F.L., Rivolta C.
ISSN
1460-2083 (Electronic)
ISSN-L
0964-6906
Publication state
Published
Issued date
15/10/2016
Peer-reviewed
Oui
Volume
25
Number
20
Pages
4546-4555
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
URN
urn:nbn:ch:serval-BIB_800C2C1B52857
OAI-PMH
oai:serval.unil.ch:BIB_800C2C1B5285
DOI
10.1093/hmg/ddw282
Pubmed
28173158
Web of science
000395809100015
Open Access
Yes
Create date
14/02/2017 10:20
Last modification date
20/08/2019 14:40
Usage data