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Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
Nguyen, Huy-Hoang; Eiden-Plach, Antje; Hannemann, Frank; Malunowicz, Ewa M; Hartmann, Michaela F; Wudy, Stefan A; Bernhardt, Rita.
Affiliation
  • Nguyen HH; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Hanoi, Vietnam.
  • Eiden-Plach A; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany.
  • Hannemann F; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany.
  • Malunowicz EM; Departments of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Hartmann MF; Steroid Research &Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany.
  • Wudy SA; Steroid Research &Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany.
  • Bernhardt R; Department of Biochemistry, Saarland University, D-66123 Saarbrücken, Campus B2.2, Germany. Electronic address: ritabern@mx.uni-saarland.de.
J Steroid Biochem Mol Biol ; 155(Pt A): 126-34, 2016 Jan.
Article in En | MEDLINE | ID: mdl-26476331
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Steroid 11-beta-Hydroxylase / Adrenal Hyperplasia, Congenital / Mutation Limits: Animals / Female / Humans / Male Language: En Journal: J Steroid Biochem Mol Biol Year: 2016 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Steroid 11-beta-Hydroxylase / Adrenal Hyperplasia, Congenital / Mutation Limits: Animals / Female / Humans / Male Language: En Journal: J Steroid Biochem Mol Biol Year: 2016 Document type: Article