ABCC8 p.Pro254Leu
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PMID: 15579781
[PubMed]
Tornovsky S et al: "Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity."
No.
Sentence
Comment
236
COS cells coexpress wild-type (wt) KIR6.2 with SUR1 mutations (G70E, G70E/R1419H, G111R, G1343E, R1419H, and R1494W) or coexpress wt SUR1 with KIR6.2 mutation (P254L).
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ABCC8 p.Pro254Leu 15579781:236:160
status: NEW242 Homozygous expression of G70E and G111R had reduced surface expression, whereas mutations R836X, G1343E, R1419H, R1494W, and P254L did not reach the plasma membrane at all, although they did associate with their respective wt partner as shown in Fig. 5A (lower panel).
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ABCC8 p.Pro254Leu 15579781:242:125
status: NEW