Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: A case report

Journal of Korean Medical Science

Volumn 24, Issue 5, 2009, Pages 979-981

  Kim, Chan Jong ^a   Woo, Young Jong ^a   Kim, Gu Hwan ^b   Yoo, Han Wook ^b  

^a Chonnam National University Medical School   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

Author keywords

Adrenocorticotropic hormone; Familial glucocorticoid deficiency; Melanocortin; Receptor; Type 2

Indexed keywords

ANTIINFLAMMATORY AGENT; GLUCOCORTICOID; HYDROCORTISONE; MELANOCORTIN 2 RECEPTOR;

ADRENAL DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA SEQUENCE; GENETICS; HOMOZYGOTE; HORMONE SUBSTITUTION; HUMAN; INFANT; MALE; METABOLISM; POINT MUTATION; POLYMERASE CHAIN REACTION;

ADRENAL GLAND DISEASES; AMINO ACID SUBSTITUTION; ANTI-INFLAMMATORY AGENTS; GLUCOCORTICOIDS; HOMOZYGOTE; HORMONE REPLACEMENT THERAPY; HUMANS; HYDROCORTISONE; INFANT; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTOR, MELANOCORTIN, TYPE 2; SEQUENCE ANALYSIS, DNA;

EID: 75349101049     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2009.24.5.979     Document Type: Article

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