Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia
Abstract Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, caused by defects in the steroidogenic acute regulatory protein (STAR). The STAR p.Q258* mutation is the most common mutation in China, Japan and Korea, suggesting a founder effect. This...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2017-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |