Open AccessMutation R96W in cytochrome P450c17 gene causes combined 17 alpha- hydroxylase/17-20-lyase deficiency in two French Canadian patients
Author(s) -
N. Laflamme
Publication year - 1996
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.81.1.264
Subject(s) - missense mutation , 21 hydroxylase , congenital adrenal hyperplasia , cyp17a1 , phenylalanine hydroxylase , mutant , mutation , exon , biology , steroid 11 beta hydroxylase , mutagenesis , genetics , gene , microbiology and biotechnology , endocrinology , steroid , hormone , amino acid , phenylalanine
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