A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family (2015)
- Authors:
- USP affiliated authors: AURICCHIO, MARIA TERESA BALESTER DE MELLO - IB ; MONTEIRO, MARIO LUIZ RIBEIRO - FM ; ROSENBERG, CARLA - IB ; NETTO, REGINA CELIA MINGRONI - IB
- Unidades: IB; FM
- DOI: 10.1038/hgv.2015.38
- Subjects: MUTAÇÃO GENÉTICA; GENÉTICA MÉDICA; PERDA AUDITIVA; SURDEZ; DELEÇÃO DE GENES; DOENÇAS GENÉTICAS; DOENÇAS HEREDITÁRIAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Genome Variation
- ISSN: 2054-345X
- Volume/Número/Paginação/Ano: v. 2, art. 15038, Oct. 2015
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
UEHARA, Daniela T et al. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family. Human Genome Variation, v. 2, 2015Tradução . . Disponível em: https://doi.org/10.1038/hgv.2015.38. Acesso em: 12 maio 2026. -
APA
Uehara, D. T., Freitas, E. L., Alves, L. U., Mazzeu, J. F., Auricchio, M. T. B. de M., Tabith Jr, A., et al. (2015). A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family. Human Genome Variation, 2. doi:10.1038/hgv.2015.38 -
NLM
Uehara DT, Freitas EL, Alves LU, Mazzeu JF, Auricchio MTB de M, Tabith Jr A, Monteiro MLM, Rosenberg C, Mingroni Netto RC. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family [Internet]. Human Genome Variation. 2015 ; 2[citado 2026 maio 12 ] Available from: https://doi.org/10.1038/hgv.2015.38 -
Vancouver
Uehara DT, Freitas EL, Alves LU, Mazzeu JF, Auricchio MTB de M, Tabith Jr A, Monteiro MLM, Rosenberg C, Mingroni Netto RC. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family [Internet]. Human Genome Variation. 2015 ; 2[citado 2026 maio 12 ] Available from: https://doi.org/10.1038/hgv.2015.38 - Investigating deafness genes as a cause of sudden sensorineural hearing loss
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