Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination (2023)
- Authors:
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM
- Unidade: FM
- DOI: 10.1210/clinem/dgad151
- Subjects: MUTAÇÃO GENÉTICA; PUBERDADE PRECOCE; WESTERN BLOTTING; CRIANÇAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Washington
- Date published: 2023
- Source:
- Título: Journal of clinical endocrinology & metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 108, n. 7, p. 1646-1656, 2023
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
MAGNOTTO, John C et al. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination. Journal of clinical endocrinology & metabolism, v. 108, n. 7, p. 1646-1656, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/54585. Acesso em: 01 abr. 2026. -
APA
Magnotto, J. C., Mancini, A., Bird, K., Montenegro, L., Tutunculer, F., Pereira, S. A., et al. (2023). Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination. Journal of clinical endocrinology & metabolism, 108( 7), 1646-1656. doi:10.1210/clinem/dgad151 -
NLM
Magnotto JC, Mancini A, Bird K, Montenegro L, Tutunculer F, Pereira SA, Simas V, Garcia L, Roberts SA, Xavier ACL. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1646-1656.[citado 2026 abr. 01 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54585 -
Vancouver
Magnotto JC, Mancini A, Bird K, Montenegro L, Tutunculer F, Pereira SA, Simas V, Garcia L, Roberts SA, Xavier ACL. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1646-1656.[citado 2026 abr. 01 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54585 - Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
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