Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: An update of new CYP21A2 mutations

Clinical Chemistry and Laboratory Medicine

Volumn 48, Issue 8, 2010, Pages 1057-1062

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

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

21 hydroxylase deficiency; congenital adrenal hyperplasia (CAH) molecular diagnosis; CYP21A2 mutations; multiplex ligation dependent probe amplification (MLPA)

Indexed keywords

COMPLEMENTARY DNA; STEROID 21 MONOOXYGENASE;

ALLELE; CHROMOSOME; CONGENITAL ADRENAL HYPERPLASIA; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ENZYME ACTIVITY; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HYPERANDROGENISM; HYPERRENINEMIA; HYPONATREMIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; SHORT SURVEY; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; GENETIC LOCI; HUMANS; MUTATION; PATHOLOGY, MOLECULAR; STEROID 21-HYDROXYLASE;

EID: 77955451907     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2010.239     Document Type: Short Survey

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