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Ezabella, M.

( M. Ezabella)


receptor mutation patient expression library erasmus mc wild-type activity response hek 293 cells phenotype leydig binding cell surface expression surface lhr gene hormone receptor activity binding sites vector leydig cell hypoplasia transfected result basal number leydig cells testosterone protein erasmu table residue level transfection brother luciferase npxxy motif cell surface december luteinizing downloaded tmd 7 missense wild-type receptor library testi missense mutation fragment endocrinol position analysis cutler jr gb hypoplasia lch type ii androgen i 625k mutation model effect micropeni lhr inactivation hcg-induced wild-type lhr amount signal ec 50 cells transfected missense mutations differentiation i 625k motif toledo domain activation affinity glycoprotein hormone receptors spermatogenesi sex differentiation sertoli cells transmembrane transduction milgrom e netherland




1 Most Recent Publications

A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypopla phenotype (Article)
Martens, J.W.M. Verhoef-Post, M. Abelin, N. Ezabella, M. Toledo, S.P. Brunner, H.G. Themmen, A.P.N.
1998-01-01