Congenital lipoid adrenal hyperplasia: Functional characterization of three novel mutations in the star gene

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 3, 2010, Pages 1301-1308

  Bens, Susanne ^a   Mohn, Angelika ^b   Yüksel, Bilgin ^c   Kulle, Alexandra E ^a   Michalek, Matthias ^a   Chiarelli, Franco ^b   Özbek, Mehmet Nuri ^c   Leuschner, Ivo ^a   Grötzinger, Joachim ^a   Holterhus, Paul Martin ^a   Riepe, Felix G ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY OF CHIETI   (Italy)

^c CUKUROVA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CORTICOTROPIN; FLUDROCORTISONE; GENOMIC DNA; HYDROCORTISONE; MUTANT PROTEIN; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; CHOLESTEROL TRANSPORT; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN BLOOD LEVEL; ETHNIC GROUP; GENE MUTATION; GONAD; HISTOLOGY; HUMAN; INFANT; ITALY; MITOCHONDRION; MOLECULAR MODEL; NEWBORN; NEWBORN SCREENING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; STEROIDOGENESIS; TURKEY (REPUBLIC); WESTERN BLOTTING;

EID: 77749270737     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1176     Document Type: Article

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