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

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Veröffentlicht in:	American journal of human genetics 2000-04, Vol.66 (4), p.1465-1467
Hauptverfasser:	López-Bigas, N., Rabionet, R., Martinez, E., Bravo, O., Girons, J., Borragan, A., Pellicer, M., Arbonés, M.L., Estivill, X.
Format:	Artikel
Sprache:	eng
Schlagworte:	12S rRNA A1555G mutation Adolescent Adult Age of Onset Aged Amino Acid Substitution - genetics Aminoglycosides Anti-Bacterial Agents - administration & dosage Child Child, Preschool Connexin 26 Connexins - genetics DNA, Mitochondrial - genetics Extrachromosomal Inheritance - genetics Genes, Dominant - genetics Genes, Recessive - genetics Genes, rRNA - genetics GJB2 (connexin 26) Hearing loss Hearing Loss, Sensorineural - epidemiology Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - physiopathology Humans Infant Infant, Newborn Letter to the Editor Middle Aged mtDNA Mutation - genetics Penetrance RNA, Ribosomal - genetics RNA, Transfer, Ser - genetics Spain tRNA Ser(UCN)
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