title: 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.
authors.forename: N
authors.initials: N
authors.lastname: López-Bigas
authors.forename: R
authors.initials: R
authors.lastname: Rabionet
authors.forename: E
authors.initials: E
authors.lastname: Martinez
authors.forename: O
authors.initials: O
authors.lastname: Bravo
authors.forename: J
authors.initials: J
authors.lastname: Girons
authors.forename: A
authors.initials: A
authors.lastname: Borragan
authors.forename: M
authors.initials: M
authors.lastname: Pellicer
authors.forename: M L
authors.initials: ML
authors.lastname: Arbonés
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: 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
chemical_list: 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