Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Camila D.Almeida Mgnani Silva"'
Autor:
Camila D.Almeida Mgnani Silva, Débora de Paula Michelatto, Ana Letícia Gori Lusa, Soara Menabo, Leif Karlsson, Bengt Persson, Svetlana Lajic, Linus J. Östberg, Lilia Baldazzi, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Antonio Balsamo, Michela Barbaro, Maricilda Palandi de Mello, Nella Augusta Greggio
Publikováno v:
Clinical Biochemistry. 73:50-56
Objective Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism and a common disorder of sex development where >90% of all cases are due to 21-hydroxylase deficiency. Novel and rare pathogenic variants account for 5% of all clinical c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c83e5965ad00935378e629d8daf720a
https://doi.org/10.1016/j.clinbiochem.2019.07.009
https://doi.org/10.1016/j.clinbiochem.2019.07.009
Autor:
Svetlana Lajic, Ana Letícia Gori Lusa, Sofia Helena Valente de Lemos-Marini, Linus J. Östberg, Michela Barbaro, Maricilda Palandi de Mello, Leif Karlsson, Gil Guerra-Júnior, Bengt Persson, Débora de Paula Michelatto, Camila D.Almeida Mgnani Silva
Publikováno v:
International Journal of Endocrinology, Vol 2016 (2016)
We present the functional and structural effects of seven novel (p.Leu12Met, p.Arg16Cys, p.Ser101Asn, p.Ser202Gly, p.Pro267Leu, p.Gln389_Ala391del, and p.Thr450Met) and two previously reported but not studied (p.Ser113Phe and p.Thr450Pro)CYP21A2mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ad1e36f7107c6ad6ec4785e0b8e40ba