Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
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Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):E1933-E1940. doi: 10.1073/pnas.1621082114. Epub 2017 Feb 22.
Proc Natl Acad Sci U S A. 2017.
PMID: 28228528
Free PMC article.
Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11beta-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe dis …
Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448 …