Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency

Metabolism: Clinical and Experimental

Volumn 59, Issue 11, 2010, Pages 1628-1632

  Katsumata, Noriyuki ^a   Shinagawa, Takashi ^a   Horikawa, Reiko ^b   Fujikura, Kaori ^c  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c Sapporo City Institute of Public Health   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CYP21A2; FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; MESSENGER RNA; SODIUM CHLORIDE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL STRAIN COS1; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORTICOTROPIN BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ENZYME ACTIVITY; GENE MUTATION; GLUCOSE INFUSION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPOGLYCEMIA; IMMUNOREACTIVITY; INTRON; JAPANESE; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RNA SPLICING; SALT WASTING 21 HYDROXYLASE DEFICIENCY; SALT WASTING ADRENAL HYPERPLASIA; SALT WASTING CONGENITAL ADRENAL HYPERPLASIA; STEROID 21 MONOOXYGENASE DEFICIENCY; TRANSIENT EXPRESSION;

ADRENAL HYPERPLASIA, CONGENITAL; ASIAN CONTINENTAL ANCESTRY GROUP; FAMILY; GENOTYPE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; POINT MUTATION; RNA SPLICE SITES; SALTS; STEROID 21-HYDROXYLASE;

EID: 78049286714     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2010.03.012     Document Type: Article

References (21)

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