Open AccessA Novel Point Mutation in P450c17 (CYP17) Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency
Author(s) -
Antonia Brooke,
Norman Taylor,
J. H. Shepherd,
M. Gore,
T. Ahmad,
LiangIn Lin,
Gill Rumsby,
Mahboubeh Papari-Zareei,
Richard J. Auchus,
John C. Achermann,
John P. Monson
Publication year - 2006
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.2005-2653
Subject(s) - point mutation , mutation , 21 hydroxylase , enzyme , chemistry , biochemistry , genetics , biology , gene
Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Novel single amino acid changes in P450c17 provide potentially important insights into key structural domains for enzyme function.
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