p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference17 articles.
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2. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia;Nimkarn;Endocrinol Metab Clin North Am,2009
3. An update of congenital adrenal hyperplasia;New;Ann N Y Acad Sci,2004
4. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man;White;Proc Natl Acad Sci U S A,1985
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2. Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach;Frontiers in Endocrinology;2022-03-29
3. Molecular probes for human cytochrome P450 enzymes: Recent progress and future perspectives;Coordination Chemistry Reviews;2021-01
4. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02
5. Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia;Biochimie;2018-06
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