Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue 9, 2006, Pages 1157-1166

  Tsiotra, Panayoula C ^a   Koukourava, Athina ^a   Kaltezioti, Valeria ^a   Geffner, Mitchell E ^b   Naville, Danielle ^c   Begeot, Martine ^c   Raptis, Sotirios A ^a,d   Tsigos, Constantine ^a  

^a Hellenic National Diabetes Center   (Greece)

^b MATTEL CHILDREN S HOSPITAL   (United States)

^c UNIVERSITÉ LYON 1   (France)

^d UNIVERSITY OF ATHENS   (Greece)

Author keywords

ACTH receptor gene (MC2R); ACTH resistance; Adrenal insufficiency; Initiator element (Inr); Isolated glucocorticoid deficiency (IGD); Promoter polymorphism

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; MELANOCORTIN 2 RECEPTOR;

ADDISON DISEASE; ADOLESCENT; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HORMONE DEFICIENCY; HORMONE RESISTANCE; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; ISOLATED GLUCOCORTICOID DEFICIENCY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATHOGENESIS; PROMOTER REGION; TRANSCRIPTION INITIATION SITE; WILD TYPE;

EID: 33750379876     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.9.1157     Document Type: Article

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