Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome (2016)
- Authors:
- Autor USP: COSTA, ANTONIO RICHIERI DA - HRAC
- Unidade: HRAC
- DOI: 10.1093/hmg/ddw064
- Subjects: MUTAÇÃO GENÉTICA; HOLOPROSENCEFALIA; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Molecular Genetics
- Volume/Número/Paginação/Ano: v. 25, n. 10, 1912-1922, 2016
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
HONG, Sungkook et al. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Human Molecular Genetics, v. 25, n. 10, 2016Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddw064. Acesso em: 13 abr. 2026. -
APA
Hong, S., Hu, P., Marino, J., Hufnagel, S. B., Hopkin, R. J., Toromanovic, A., et al. (2016). Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Human Molecular Genetics, 25( 10). doi:10.1093/hmg/ddw064 -
NLM
Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Bicudo LAR, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome [Internet]. Human Molecular Genetics. 2016 ; 25( 10):[citado 2026 abr. 13 ] Available from: https://doi.org/10.1093/hmg/ddw064 -
Vancouver
Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Bicudo LAR, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome [Internet]. Human Molecular Genetics. 2016 ; 25( 10):[citado 2026 abr. 13 ] Available from: https://doi.org/10.1093/hmg/ddw064 - Noonan syndrome in diverse populations
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