Functional characterization of a novel missense mutation (P341L) in the HSD3B2 gene causing classic 3beta-hydroxysteroid dehydrogenase deficiency (3β-HSD) congenital adrenal hyperplasia (CAH)

被引:0
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作者
Welzel, Maik
Krone, Nils
Schleicher, Gunter Simic
Sippell, Wolfgang G.
Holterhus, Paul Martin
Riepe, Felix G.
机构
[1] Univ Kiel, Div Pediat Endocrinol, D-24105 Kiel, Germany
[2] Klinikum Bremen Nord, Bremen, Germany
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R5 [内科学];
学科分类号
1002 ; 100201 ;
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页码:116 / 116
页数:1
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