Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia

Clinical Endocrinology

Volumn 71, Issue 4, 2009, Pages 470-476

  Concolino, Paola ^a   Vendittelli, Francesca ^a   Mello, Enrica ^a   Minucci, Angelo ^a   Carrozza, Cinzia ^a   Rossodivita, Aurora ^a   Giardina, Bruno ^a   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 21A2; DEXAMETHASONE; HYDROXYPROGESTERONE; PROGESTERONE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE CONVERSION; GENE EXPRESSION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HIRSUTISM; HORMONE BLOOD LEVEL; HUMAN; IN VITRO STUDY; ITALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OVARY POLYCYSTIC DISEASE; PATIENT COMPLIANCE; PRIORITY JOURNAL; RNA SPLICING; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE ALIGNMENT; STEROID 21-HYDROXYLASE;

EID: 69949173540     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2008.03517.x     Document Type: Article

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