Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families (2017)
- Authors:
- Santana, L. S.
- Caetano, L. A.
- Costa-riquetto, Aline Dantas
- Quedas, Elisângela Pereira de Souza
- Nery, M.
- Collet-Solberg, P. F
- Boguszewski, Margaret C. S
- Vendramini, V. F.
- Crisóstomo, Lindiane Gomes
- Floh, Flavia Osmo
- Zarabia, Z. L.
- Kohara, S. K.
- Guastapaglia, L.
- Passone, Caroline de Gouveia Buff
- Sewaybricker, Luciano Esposito
- Jorge, A. A. L.
- Teles, M. G.
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1111/cge.12897
- Subjects: DIABETES MELLITUS; BRASILEIROS; PREVALÊNCIA
- Language: Inglês
- Imprenta:
- Publisher place: Copenhagen
- Date published: 2017
- Source:
- Título: Clinical Genetics
- ISSN: 0009-9163
- Volume/Número/Paginação/Ano: v. 92, n. 4, p. 388-396, 2017
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
SANTANA, L. S. et al. Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families. Clinical Genetics, v. 92, n. 4, p. 388-396, 2017Tradução . . Disponível em: https://doi.org/10.1111/cge.12897. Acesso em: 24 fev. 2026. -
APA
Santana, L. S., Caetano, L. A., Costa-riquetto, A. D., Quedas, E. P. de S., Nery, M., Collet-Solberg, P. F., et al. (2017). Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families. Clinical Genetics, 92( 4), 388-396. doi:10.1111/cge.12897 -
NLM
Santana LS, Caetano LA, Costa-riquetto AD, Quedas EP de S, Nery M, Collet-Solberg PF, Boguszewski MCS, Vendramini VF, Crisóstomo LG, Floh FO, Zarabia ZL, Kohara SK, Guastapaglia L, Passone C de GB, Sewaybricker LE, Jorge AAL, Teles MG. Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families [Internet]. Clinical Genetics. 2017 ; 92( 4): 388-396.[citado 2026 fev. 24 ] Available from: https://doi.org/10.1111/cge.12897 -
Vancouver
Santana LS, Caetano LA, Costa-riquetto AD, Quedas EP de S, Nery M, Collet-Solberg PF, Boguszewski MCS, Vendramini VF, Crisóstomo LG, Floh FO, Zarabia ZL, Kohara SK, Guastapaglia L, Passone C de GB, Sewaybricker LE, Jorge AAL, Teles MG. Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families [Internet]. Clinical Genetics. 2017 ; 92( 4): 388-396.[citado 2026 fev. 24 ] Available from: https://doi.org/10.1111/cge.12897 - The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
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Informações sobre o DOI: 10.1111/cge.12897 (Fonte: oaDOI API)
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