Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling

Journal of Steroid Biochemistry and Molecular Biology

Volumn 97, Issue 3, 2005, Pages 257-265

  Patocs, Attila ^a   Liko, István ^b   Varga, Ibolya ^a   Gergics, Peter ^a   Boros, Andras ^b   Futo, Laszlo ^c   Kun, Imre ^d   Bertalan, Rita ^e   Toth, Szilvia ^b   Pazmany, Tamas ^b   Toth, Miklós ^a   Szücs, Nikolette ^a   Horanyi, Janos ^a   Glaz, Edit ^a   Racz, Karoly ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b GEDEON RICHTER LTD   (Hungary)

^c Markhot Ferenc Hospital   (Hungary)

^d IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^e Csolnoky F County Hospital Veszprem   (Hungary)

Author keywords

17 Hydroxylase 17,20 lyase deficiency; Congenital adrenal hyperplasia; CYP17; Myelolipoma; P450c17

Indexed keywords

ARGININE; CYSTEINE; CYTOCHROME P450; CYTOCHROME P450 17; GLYCINE; HEME; HYDROGEN; PROPIONIC ACID DERIVATIVE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE;

ADRENAL GLAND; ADULT; ARTICLE; BINDING SITE; CASE REPORT; CELL STRAIN COS1; CHEMICAL BOND; CHROMOSOME 10Q; CLINICAL FEATURE; CODON; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME MECHANISM; FEMALE; FUNCTIONAL ASSESSMENT; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPERTENSION; HYPOKALEMIA; IN VITRO STUDY; INGUINAL CANAL; KARYOTYPE; MUTAGENESIS; MUTATIONAL ANALYSIS; MYELOLIPOMA; NUCLEOTIDE SEQUENCE; OVARY; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN FUNCTION; STEROID 17,20 LYASE DEFICIENCY; WILD TYPE;

EID: 27744503078     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2005.06.035     Document Type: Article

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