ABCC8 p.Lys719Pro
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PMID: 16429405
[PubMed]
Fernandez-Marmiesse A et al: "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."
No.
Sentence
Comment
115
It was previously described a mutation which affected the same codon and promoted the change K719P (Gribble et al. 1997) and functional experiments showed that it provoked a reduced response to ADP-Mg.
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ABCC8 p.Lys719Pro 16429405:115:93
status: NEW