Novel nonsense mutation (W22X)in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl [2]

Journal of Endocrinological Investigation

Volumn 30, Issue 9, 2007, Pages 806-807

  Di Pasquale, L ^a   Indovina, S ^b   Wasniewska, M ^a   Mirabelli, S ^a   Porcelli, P ^b   Rulli, I ^a   Salzano, G ^a   De Luca, F ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b Villa Sofia Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

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

AMINO ACID SUBSTITUTION; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; DNA POLYMORPHISM; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; LETTER; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS;

EID: 36949005866     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03350823     Document Type: Letter

References (9)

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