Source:http://linkedlifedata.com/resource/pubmed/id/16569739
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
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| pubmed:dateCreated |
2006-6-7
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| pubmed:abstractText |
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. OBJECTIVE, DESIGN, AND SETTING: We report a novel missense mutation in P450c17 in a 17-yr-old female presenting with a malignant mixed germ cell tumor with yolk sac elements who demonstrated clinical and biochemical features of combined 17alpha-hydroxylase/17,20-lyase deficiency.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0021-972X
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
91
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
2428-31
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:16569739-Adolescent,
pubmed-meshheading:16569739-Adrenal Hyperplasia, Congenital,
pubmed-meshheading:16569739-Female,
pubmed-meshheading:16569739-Humans,
pubmed-meshheading:16569739-Models, Molecular,
pubmed-meshheading:16569739-Mutation, Missense,
pubmed-meshheading:16569739-Point Mutation,
pubmed-meshheading:16569739-Steroid 17-alpha-Hydroxylase
|
| pubmed:year |
2006
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| pubmed:articleTitle |
A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
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| pubmed:affiliation |
Center for Endocrinology, William Harvey Research Institute, St. Bartholomew's Hospital, Queen Mary, University of London, London EC1A 7BE, United Kingdom.
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| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|