Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.
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Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing lossNon-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Mitochondrial rRNA and tRNA and hearing function.Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafnessThe role of mitochondrial DNA mutations in hearing loss.Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.
P2860
Q24791654-00AD9FCD-7488-4184-8378-270E8BA04E6BQ30458147-DAF8C1EB-3FDB-4EBA-A4C0-CA57BDB06462Q33843127-81B5F50D-7203-493E-B333-EBF979775A3EQ36697530-1262F0CB-D304-49AC-825B-8F6C8651A657Q37071065-DF38E3C2-D9C9-410B-A053-835E4C130A03Q38100717-56721772-6F4D-4C3A-AB4A-68D62BEC2ED2Q43784130-9ADBE5F8-2725-469D-A4D3-67736EC3A396Q47161567-6A717833-ECA6-4A8E-BE8D-6634425A672E
P2860
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.
description
2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Maternally inherited non-syndr ...... chondrial tRNA(Ser(UCN)) gene.
@ast
Maternally inherited non-syndr ...... chondrial tRNA(Ser(UCN)) gene.
@en
type
label
Maternally inherited non-syndr ...... chondrial tRNA(Ser(UCN)) gene.
@ast
Maternally inherited non-syndr ...... chondrial tRNA(Ser(UCN)) gene.
@en
prefLabel
Maternally inherited non-syndr ...... chondrial tRNA(Ser(UCN)) gene.
@ast
Maternally inherited non-syndr ...... chondrial tRNA(Ser(UCN)) gene.
@en
P2093
P356
P1476
Maternally inherited non-syndr ...... chondrial tRNA(Ser(UCN)) gene.
@en
P2093
Moreno-Pelayo MA
Villamar M
del Castillo FJ
del Castillo I
P356
10.1136/JMG.39.12.E82
P407
P577
2002-12-01T00:00:00Z