A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia- CYP21A2 -R484Q Mutant Mouse
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia- CYP21A2 -R484Q Mutant Mouse
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder impairing cortisol synthesis due to reduced enzymatic activity. This leads to persistent adrenocortical overstimulation and the accumulation of precursors before the blocked enzymatic step. The predominant form of CAH arises from mutations in
, causing 21-hydroxylase deficie...
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Full title
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia- CYP21A2 -R484Q Mutant Mouse
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TN_cdi_proquest_miscellaneous_3060373611
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3060373611
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms25105062
