Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect (2015)
- Authors:
- Tavares, Vanessa Luiza Romanelli
- Gordon, Christopher T
- Zechi-Ceide, Roseli Maria
- Nakata, Nancy Mizue Kokitsu
- Voisin, Norine
- Tan, Tiong Y
- Heggie, Andrew A
- Pittoli, Siulan Vendramini Paulovich
- Propst, Evan J
- Papsin, Blake C
- Torres, Tatiana Teixeira
- Buermans, Henk
- Capelo, Luciane Portas
- Den Dunnen, Johan T
- Guion-Almeida, Maria Leine
- Lyonnet, Stanislas
- Amiel, Jeanne
- Passos-Bueno, Maria Rita
- Tavares, Vanessa Luiza Romanelli
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; PITTOLI, SIULAN VENDRAMINI PAULOVICH - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; TORRES, TATIANA TEIXEIRA - IB ; TAVARES, VANESSA LUIZA ROMANELLI - IB
- Unidades: HRAC; IB
- DOI: 10.1038/ejhg.2014.132
- Subjects: ANORMALIDADES CRANIOFACIAIS; DOENÇAS GENÉTICAS; GENES
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: European Journal of Human Genetics
- ISSN: 1018-4813
- Volume/Número/Paginação/Ano: v. 23, n. 4, p. 481-485, Apr. 2015
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
TAVARES, Vanessa Luiza Romanelli et al. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, v. 23, n. 4, p. 481-485, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.132. Acesso em: 16 abr. 2024. -
APA
Tavares, V. L. R., Gordon, C. T., Zechi-Ceide, R. M., Nakata, N. M. K., Voisin, N., Tan, T. Y., et al. (2015). Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, 23( 4), 481-485. doi:10.1038/ejhg.2014.132 -
NLM
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 abr. 16 ] Available from: https://doi.org/10.1038/ejhg.2014.132 -
Vancouver
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 abr. 16 ] Available from: https://doi.org/10.1038/ejhg.2014.132 - Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
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Informações sobre o DOI: 10.1038/ejhg.2014.132 (Fonte: oaDOI API)
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