A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility*Yvonne Lundberg Giwercman; Andrej Nikoshkov; Birgitta Byström; Åke Pousette; Stefan Arver; Anna Wedell · 2001

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European populationIsmael Ejarque; Jose T. Real; Sergio Martinez-Hervas; F. Javier Chaves; Sebastian Blesa; Ana B. Garcia-Garcia; Enrique Millan; Juan F. Ascaso; Rafael Carmena · 2008

Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1)Eugster, E. · Yearbook of Endocrinology · 2010

Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and AlopeciaPapadopoulou, Anna; Bountouvi, Evangelia; Gole, Evangelia; Doulgeraki, Artemis; Tournis, Symeon; Papadimitriou, Anastasios; Nicolaidou, Polyxeni · Hormone Research in Paediatrics · 2014

Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1)McMahon, Sarah K.; Pretorius, Carel J.; Ungerer, Jacobus P. J.; Salmon, Nathaniel J.; Conwell, Louise S.; Pearen, Michael A.; Batch, Jennifer A. · The Journal of Clinical Endocrinology & Metabolism · 2010