A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.

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Serval ID
serval:BIB_4DF7B6959057
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
Institution
Production externe
Title
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Journal
Ophthalmic genetics
Author(s)
Ansar M., Javed S., Baig HMA, Quinodoz M., Ullah M., Han J.H., Rahim M.U., Kausar H., Calzetti G., Rivolta C.
ISSN
1744-5094 (Electronic)
ISSN-L
1381-6810
Publication state
Published
Issued date
10/2022
Peer-reviewed
Oui
Volume
43
Number
5
Pages
720-723
Language
english
Notes
Publication types: Research Support, Non-U.S. Gov't ; Letter
Publication Status: ppublish
Keywords
Codon, Nonsense, Ear/abnormalities, Eye Abnormalities/genetics, Homeodomain Proteins/genetics, Humans, Mutation, Siblings
DOI
10.1080/13816810.2022.2096242
Pubmed
35946463
Web of science
000838595600001
Create date
01/02/2023 10:07
Last modification date
23/02/2023 9:24
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