A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome (2015)
- Authors:
- USP affiliated authors: OTTO, PAULO ALBERTO - IB ; NETTO, REGINA CELIA MINGRONI - IB
- Unidade: IB
- DOI: 10.1590/S1415-475738120140125
- Subjects: MALFORMAÇÕES (CONGÊNITO); DOENÇAS GENÉTICAS; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Publisher place: Ribeirão Preto
- Date published: 2015
- Source:
- Título: Genetics and Molecular Biology
- ISSN: 1678-4685
- Volume/Número/Paginação/Ano: v. 38, n. 1, p. 37-41, 2015.
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
ALVES, Leandro Ucela et al. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Genetics and Molecular Biology, v. 38, n. 1, p. 37-41, 2015Tradução . . Disponível em: https://doi.org/10.1590/S1415-475738120140125. Acesso em: 07 fev. 2026. -
APA
Alves, L. U., Pardono, E., Otto, P. A., & Mingroni Netto, R. C. (2015). A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Genetics and Molecular Biology, 38( 1), 37-41. doi:10.1590/S1415-475738120140125 -
NLM
Alves LU, Pardono E, Otto PA, Mingroni Netto RC. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome [Internet]. Genetics and Molecular Biology. 2015 ; 38( 1): 37-41.[citado 2026 fev. 07 ] Available from: https://doi.org/10.1590/S1415-475738120140125 -
Vancouver
Alves LU, Pardono E, Otto PA, Mingroni Netto RC. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome [Internet]. Genetics and Molecular Biology. 2015 ; 38( 1): 37-41.[citado 2026 fev. 07 ] Available from: https://doi.org/10.1590/S1415-475738120140125 - Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
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Informações sobre o DOI: 10.1590/S1415-475738120140125 (Fonte: oaDOI API)
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