High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency (2021)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- DOI: 10.1016/j.ajhg.2021.06.013
- Subjects: HORMÔNIOS HIPOFISÁRIOS; MUTAÇÃO GENÉTICA; HORMÔNIO DO CRESCIMENTO
- Agências de fomento:
- National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA
- Japan Society for Promotion of ScienceMinistry of Education, Culture, Sports, Science and Technology, Japan (MEXT)Japan Society for the Promotion of Science
- Sao Paulo Research Foundation (FAPESP)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
- PfizerPfizer
- Argentinean National Agency of Scientific and Technical Promotion
- Language: Inglês
- Imprenta:
- Source:
- Título: American journal of human genetics
- ISSN: 0002-9297
- Volume/Número/Paginação/Ano: v. 108, n. 8, p. 1526-1539, 2021
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
GERGICS, Peter et al. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. American journal of human genetics, v. 108, n. 8, p. 1526-1539, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2021.06.013. Acesso em: 06 maio 2026. -
APA
Gergics, P., Smith, C., Bando, H., Jorge, A. A. de L., Rockstroh-lippold, D., Vishnopolska, S. A., et al. (2021). High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. American journal of human genetics, 108( 8), 1526-1539. doi:10.1016/j.ajhg.2021.06.013 -
NLM
Gergics P, Smith C, Bando H, Jorge AA de L, Rockstroh-lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Mendonca BB de. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency [Internet]. American journal of human genetics. 2021 ; 108( 8): 1526-1539.[citado 2026 maio 06 ] Available from: https://doi.org/10.1016/j.ajhg.2021.06.013 -
Vancouver
Gergics P, Smith C, Bando H, Jorge AA de L, Rockstroh-lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Mendonca BB de. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency [Internet]. American journal of human genetics. 2021 ; 108( 8): 1526-1539.[citado 2026 maio 06 ] Available from: https://doi.org/10.1016/j.ajhg.2021.06.013 - Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
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