Novel human pathological mutations. Gene symbol: NR3C1. Disease: glucocorticoid receptor deficiency

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Bibliographic Details
Published in:Human genetics 2009-08, Vol.126 (2), p.337-337
Main Authors: Pretorius, Carel, McMahon, Sarah K, Ungerer, Jacobus P K, Salmon, Nathaniel, Comwell, Louise, Louise, Jennifer A
Format: Article
Language:English
Subjects:
Base Sequence
Child
Codon
Codon, Terminator
DNA Mutational Analysis
Frameshift Mutation
Homozygote
Humans
Molecular Sequence Data
Nucleotides - genetics
Receptors, Glucocorticoid - deficiency
Receptors, Glucocorticoid - genetics
Online Access:Get full text
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ISSN:1432-1203