PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 19454579-3 2009 OBJECTIVE: The aim of the study was to analyze the structural and functional consequences of three novel (A174E, V178D, and L465P) and one previously reported (R440C) CYP17A1 mutation found in three patients clinically and biochemically presenting with 17OHD. 17ohd 253-258 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 167-174 26862015-2 2017 The most severe mutations in the cognate CYP17A1 gene abrogate all activities and cause combined 17-hydroxylase/17,20-lyase deficiency (17OHD), a biochemical phenotype that is replicated by treatment with the potent CYP17A1 inhibitor abiraterone acetate. 17ohd 136-141 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 41-48 26862015-2 2017 The most severe mutations in the cognate CYP17A1 gene abrogate all activities and cause combined 17-hydroxylase/17,20-lyase deficiency (17OHD), a biochemical phenotype that is replicated by treatment with the potent CYP17A1 inhibitor abiraterone acetate. 17ohd 136-141 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 216-223 20021817-10 2009 This is probably the first report in the world of a twin sisters of whom one is a patient with 17OHD and the other is a carrier of CYP17A1 gene mutation. 17ohd 95-100 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 131-138 32945709-9 2021 In conclusion, we discovered a novel splicing mutation of the CYP17A1 gene in a Chinese patient with 17OHD. 17ohd 101-106 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 62-69 31464148-8 2020 We report a homozygous missense mutation in the CYP17A1 gene causing 17OHD in two sisters from Loja, Ecuador. 17ohd 69-74 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 48-55 7629254-3 1995 We experienced a case of 17OHD and intended to reveal the abnormality of the CYP17 gene in this Japanese female with 17OHD. 17ohd 25-30 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 77-82 7629254-3 1995 We experienced a case of 17OHD and intended to reveal the abnormality of the CYP17 gene in this Japanese female with 17OHD. 17ohd 117-122 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 77-82