Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
about
Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Novel transmembrane protein 126A (TMEM126A) couples with CD137L reverse signals in myeloid cells.TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathyFDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
P2860
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Nonsense mutation in TMEM126A ...... rophy and auditory neuropathy.
@ast
Nonsense mutation in TMEM126A ...... rophy and auditory neuropathy.
@en
type
label
Nonsense mutation in TMEM126A ...... rophy and auditory neuropathy.
@ast
Nonsense mutation in TMEM126A ...... rophy and auditory neuropathy.
@en
prefLabel
Nonsense mutation in TMEM126A ...... rophy and auditory neuropathy.
@ast
Nonsense mutation in TMEM126A ...... rophy and auditory neuropathy.
@en
P2093
P2860
P1433
P1476
Nonsense mutation in TMEM126A ...... trophy and auditory neuropathy
@en
P2093
Anthony T Moore
Eamonn R Maher
Esther Meyer
Fatimah Rahman
Linda M Luxon
Louise J Tee
Michel Michaelides
Shanaz Pasha
P2860
P304
P50
P577
2010-04-13T00:00:00Z