Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.

Human genetics

Volumn 122, Issue 5, 2007, Pages 559-

  Concolino, Paola ^a   Santonocito, Concetta ^a   Minucci, Angelo ^a   Carrozza, Cinzia ^a   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a   Giardina, Bruno ^a  

^a Largo F Vito ^*  (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; CODON; CONGENITAL ADRENAL HYPERPLASIA; ENZYMOLOGY; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION;

ADRENAL HYPERPLASIA, CONGENITAL; ADRENOGENITAL SYNDROME; AMINO ACID SUBSTITUTION; CODON; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; STEROID 21-HYDROXYLASE;

EID: 42049088100     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)