Method and kit for diagnosing gh deficiency

Details Method and kit for diagnosing gh deficiency Method and kit for diagnosing gh deficiency

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07K 14/61 (2006.01)

Patent

CA 2441789

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 G6191 to T in exon 4 of GH-1 which changes valine 110 to phenylalanine.

La présente invention concerne une méthode et une trousse qui permettent de diagnostiquer la déficience en hormone de croissance (GH), notamment la déficience II en hormone de croissance isolée (IGHD II). La méthode comprend des étapes qui consistent à analyser la mutation faux-sens G?6191¿ sur T dans l'exon 4 de <i>GH-1</i> qui change la valine 110 en phénylalanine.

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