Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common cause of congenital adrenal hyperplasia. Mutations in the CYP11B1 gene, which encodes steroid 11β-hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously rep...
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Main Authors: | Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New |
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Format: | Article |
Language: | English |
Published: |
Wiley
2014-01-01
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Series: | International Journal of Endocrinology |
Online Access: | http://dx.doi.org/10.1155/2014/185974 |
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