ea0020p534 | Growth and Developmental Endocrinology | ECE2009
, Braig Friederike
, Piilonen Katri
, Strasburger Christian
, Wu Zida
Introduction: Two heterozygous missense mutations R77C and D112G have been identified in GH-1 gene of patients with short stature by Takahashi et al. These patients had high serum immunoreactive GH concentrations but low IGF-1 concentrations, indicating bioinactivity of their GH. Separation of GH in patients serum by isoelectric focusing revealed the coexistence of mutant and wild type (wt) GH. In order to understand the molecular mechanism of the isolated GH defi...