A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–ICYP21A2/I-R484Q Mutant Mouse
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–ICYP21A2/I-R484Q Mutant Mouse
About this item
Full title
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–ICYP21A2/I-R484Q Mutant Mouse
Author / Creator
Publisher
MDPI AG
Journal title
International journal of molecular sciences, 2024-05, Vol.25 (10)
Language
English
Formats
Publication information
Publisher
MDPI AG
Subjects
More information
Scope and Contents
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 CYP21A2, causing 21-hydroxylase def...
Alternative Titles
Full title
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–ICYP21A2/I-R484Q Mutant Mouse
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A795394127
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A795394127
Other Identifiers
ISSN
1422-0067
DOI
10.3390/ijms25105062
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