A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia (Q34131938)
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Language | Label | Description | Also known as |
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English | A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia |
scientific article |
Statements
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A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia (English)
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Songya Pang
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Weihua Wang
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Barry Rich
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Raphael David
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Ying Tai Chang
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Goldy Carbunaru
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Susan E Myers
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A Forbes Howie
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Karen J Smillie
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J Ian Mason
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1 June 2002
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87
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2556-2563
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Identifiers
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