Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes

Clinical Endocrinology

Volumn 67, Issue 2, 2007, Pages 168-174

  Keegan, Catherine E ^a   Hutz, Janna E ^a   Krause, Andrea S ^a   Koehler, Katrin ^b   Metherell, Louise A ^c   Boikos, Sosipatros ^d   Stergiopoulos, Sotirios ^d   Clark, Adrian J L ^c   Stratakis, Constantine A ^d   Huebner, Angela ^b   Hammer, Gary D ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN;

ADRENAL DISEASE; ADRENOCORTICAL DYSPLASIA GENE; ALLGROVE SYNDROME; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CORTICOTROPIN RESISTANCE; DNA DETERMINATION; DNA POLYMORPHISM; FAMILIAL DISEASE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; GLUCOCORTICOSTEROID DEFICIENCY; HAPLOTYPE; HORMONE DEFICIENCY; HORMONE RESISTANCE; HUMAN; MALE; MULTIGENE FAMILY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADRENAL INSUFFICIENCY; ADRENOCORTICOTROPIC HORMONE; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL ACHALASIA; FEMALE; GLUCOCORTICOIDS; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TELOMERE-BINDING PROTEINS;

EID: 34447500242     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02855.x     Document Type: Article

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