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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Clin Biochem. 2019 Nov;73:50-56. doi: 10.1016/j.clinbiochem.2019.07.009. Epub 2019 Jul 22.
Clin Biochem. 2019.
PMID: 31344365
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
de Paula Michelatto D, Karlsson L, Lusa AL, Silva CD, Östberg LJ, Persson B, Guerra-Júnior G, de Lemos-Marini SH, Barbaro M, de Mello MP, Lajic S.
de Paula Michelatto D, et al. Among authors: lusa al.
Int J Endocrinol. 2016;2016:4209670. doi: 10.1155/2016/4209670. Epub 2016 Sep 19.
Int J Endocrinol. 2016.
PMID: 27721825
Free PMC article.
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Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
Leme de Calais FL, Soardi FC, Petroli RJ, Lusa AL, de Paiva E Silva RB, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP.
Leme de Calais FL, et al. Among authors: lusa al.
Int J Mol Sci. 2011;12(12):9471-80. doi: 10.3390/ijms12129471. Epub 2011 Dec 19.
Int J Mol Sci. 2011.
PMID: 22272144
Free PMC article.
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