Targeted sequencing identifies novel variants in common and rare MODY genes

BACKGROUND: Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have been screened for MODY, all using a candidate gene approach, wi...

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Detalles Bibliográficos
Autores principales: de Santana, Lucas S., Caetano, Lilian A., Costa‐Riquetto, Aline D., Franco, Pedro C., Dotto, Renata P., Reis, André F., Weinert, Letícia S., Silveiro, Sandra P., Vendramini, Marcio F., do Prado, Flaviene A., Abrahão, Giovanna C. P., de Almeida, Ana Gregória F. P., Tavares, Maria da G. Rodrigues, Gonçalves, Wagner Rodrigo B., Santomauro Junior, Augusto C., Halpern, Bruno, Jorge, Alexander A. L., Nery, Marcia, Teles, Milena G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900361/
https://www.ncbi.nlm.nih.gov/pubmed/31595705
http://dx.doi.org/10.1002/mgg3.962

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