Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.
López-Bigas
N
N
Rabionet
R
R
Martinez
E
E
Bravo
O
O
Girons
J
J
Borragan
A
A
Pellicer
M
M
Arbonés
M L
ML
Estivill
X
X
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D000617:Aminoglycosides; D000900:Anti-Bacterial Agents / Q000008:administration & dosage; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005111:Extrachromosomal Inheritance / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D020459:Genes, rRNA / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D012335:RNA, Ribosomal / Q000235:genetics*; D012362:RNA, Transfer, Ser / Q000235:genetics*; D013030:Spain
D000617:Aminoglycosides; D000900:Anti-Bacterial Agents; D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D012335:RNA, Ribosomal; D012362:RNA, Transfer, Ser; C075526:RNA, ribosomal, 12S; D000072259:Connexin 26