METHOD AND KIT FOR DIAGNOSING GH DEFICIENCY

摘要

The present invention relates to a method and kit for diagnosing GH (growth hormone) deficiency, in particular isolated growth hormone deficiency II (IGHD II). The method comprises the steps of analysing the missense mutation G<6191> to T in exon 4 of GH-1 which changes valine 110 to phenylalanine.