<i>KCNJ11</i>activating mutations in Italian patients with permanent neonatal diabetes

<i>KCNJ11</i>activating mutations in Italian patients with permanent neonatal diabetes

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous...

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Príomhchruthaitheoirí: Ornella Massa, Dario Iafusco, Elena D’Amato, Anna L. Gloyn, Andrew T. Hattersley, B Pasquino, Giuseppe Tonini, Francesco Dammacco, Giorgio Zanette, Franco Meschi, Ottavia Porzio, GianFranco Bottazzo, Antonino Crinò, Renata Lorini, Fránco Cerutti, Maurizio Vanelli, Fabrizio Barbetti
Formáid: Artigo
Teanga:Béarla
Foilsithe / Cruthaithe: 2004
Rochtain ar líne:https://doi.org/10.1002/humu.20124
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https://doi.org/10.1002/humu.20124

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