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CYP21A2 intronic variants causing 21-hydroxylase deficiency

Paola Concolino1, Roberta Rizza1, Alessandra Costella1

  • 1Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

Metabolism: Clinical and Experimental
|May 20, 2017
PubMed

Keywords:
21-Hydroxylase deficiencyCongenital adrenal hyperplasiaIntronic variantMolecular diagnosisSplicing mutations

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