Novel human pathological mutations. Gene symbol: NR3C1. Disease: glucocorticoid receptor deficiency.
作者信息
Pretorius Carel, McMahon Sarah K, Ungerer Jacobus P K, Salmon Nathaniel, Comwell Louise, Louise Jennifer A
机构信息
Chemical Pathology, Pathology Queensland, Brisbane, Australia.
出版信息
Hum Genet. 2009 Aug;126(2):337.
PMID:19694013
Abstract
摘要
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