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
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by-nc-nd
-
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 out. 2024. -
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 2024 out. 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 2024 out. 12 ] Available from: https://doi.org/10.1038/hgv.2015.38 - Genomic ancestry of rural african-derived populations from southeastern Brazil
- Genomic ancestry of rural african-derived populations from Southeastern Brazil
- Multilocus effects of seven polymorphisms on essential hypertension in rural semi-isolated African-derived Brazilian populations: a family-based analysis
- The importance of genetic studies in children with hearing loss ascertained after universal neonatal hearing screening (UNHS)
- Investigating deafness genes as a cause of sudden sensorineural hearing loss
- Inferring paternal history of rural african-derived brazilian populations from y chromosomes
- Genomic copy number alterations in non-syndromic hearing loss
- Multilocus family-based association analysis of seven candidate polymorphisms with essential hypertension in an African-derived semi-isolated Brazilian population
- Multilocus analyses of seven candidate genes suggest interacting pathways for obesity-related traits in brazilian populations
- Investigating deafness genes as a cause of sudden sensorineural hearing loss
Informações sobre o DOI: 10.1038/hgv.2015.38 (Fonte: oaDOI API)
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