Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant
dc.contributor.author | METHERELL, LA | en_US |
dc.contributor.author | 44th Meeting of the British Society for Paediatric Endocrinology and Diabetes | en_US |
dc.date.accessioned | 2017-03-15T12:20:24Z | |
dc.date.available | 2016-11-14 | en_US |
dc.date.issued | 2016-11-14 | en_US |
dc.date.submitted | 2017-01-03T09:26:53.015Z | |
dc.identifier.uri | http://qmro.qmul.ac.uk/xmlui/handle/123456789/20640 | |
dc.language.iso | en | en_US |
dc.title | Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant | en_US |
dc.type | Conference Proceeding | |
dc.identifier.doi | 10.1530/endoabs.45.OC5.6 | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published | en_US |
dcterms.dateAccepted | 2016-11-14 | en_US |
qmul.funder | Antioxidant defence in adrenocortical cells::MRC | en_US |
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