A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency

Clinical Chemistry and Laboratory Medicine

Volumn 47, Issue 7, 2009, Pages 824-825

  Concolino, Paola ^a   Minucci, Angelo ^a   Mello, Enrica ^a   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

21 hydroxylase gene (CYP21A2); Congenital adrenal hyperplasia (CAH); 21 hydroxylase deficiency

Indexed keywords

ALDOSTERONE; GLUCOCORTICOID; MINERALOCORTICOID; STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 6P; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CYP21A1P GENE; CYP21A2 GENE; DISEASE SEVERITY; GENE; GENE LOCUS; HUMAN; HYPONATREMIA; MALE; METABOLIC ACIDOSIS; NEWBORN; NONSENSE MUTATION; PRIORITY JOURNAL; PSEUDOGENE; ROMANIA; SALT WASTING; STEROID 21 MONOOXYGENASE DEFICIENCY; VOMITING; WEIGHT REDUCTION;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; CODON, NONSENSE; HUMANS; INFANT, NEWBORN; PEDIGREE; STEROID 21-HYDROXYLASE;

EID: 67849133580     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2009.195     Document Type: Article

References (9)

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