PMID: 18025408

Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
Diabetes Care. 2008 Feb;31(2):204-9. Epub 2007 Nov 19., [PubMed]
Sentences
No. Mutations Sentence Comment
54 ABCC8 p.Val86Ala
X
ABCC8 p.Val86Ala 18025408:54:392
status: NEW
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ABCC8 p.Phe132Leu
X
ABCC8 p.Phe132Leu 18025408:54:556
status: NEW
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ABCC8 p.Asp212Ile
X
ABCC8 p.Asp212Ile 18025408:54:472
status: NEW
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ABCC8 p.Asp209Glu
X
ABCC8 p.Asp209Glu 18025408:54:336
status: NEW
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ABCC8 p.Thr229Ile
X
ABCC8 p.Thr229Ile 18025408:54:355
status: NEW
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ABCC8 p.Thr229Ile
X
ABCC8 p.Thr229Ile 18025408:54:489
status: NEW
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ABCC8 p.Glu208Lys
X
ABCC8 p.Glu208Lys 18025408:54:431
status: NEW
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ABCC8 p.Pro45Leu
X
ABCC8 p.Pro45Leu 18025408:54:310
status: NEW
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ABCC8 p.Val607Met
X
ABCC8 p.Val607Met 18025408:54:424
status: NEW
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ABCC8 p.Asp209Asn
X
ABCC8 p.Asp209Asn 18025408:54:550
status: NEW
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ABCC8 p.Val215Ile
X
ABCC8 p.Val215Ile 18025408:54:418
status: NEW
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Doses Table 1-Clinical characteristics of patients with SUR1 mutations according to success of treatment with sulfonylureas Characteristic All patients Patients with successful sulfonylurea treatment Patients with unsuccessful sulfonylurea treatment P* n 27 23 4 Mutation (number of patients) NA V86G†, P45L/G1401R- (2)†, D209E (3)†, T229I/V1523L†, Q211K†, V86A (2)†, E1507G, V215I/V607M, E208K/Y263D†, R1380L (2)‡, D212I (3)§, T229I/T229I‡, R1183W§, L225P†, R826W, and D209N F132L (2)†, F132V†, and N72S† (mosaic). Login to comment
56 ABCC8 p.Val86Ala
X
ABCC8 p.Val86Ala 18025408:56:387
status: NEW
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ABCC8 p.Phe132Leu
X
ABCC8 p.Phe132Leu 18025408:56:544
status: NEW
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ABCC8 p.Asp212Ile
X
ABCC8 p.Asp212Ile 18025408:56:464
status: NEW
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ABCC8 p.Asp209Glu
X
ABCC8 p.Asp209Glu 18025408:56:334
status: NEW
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ABCC8 p.Thr229Ile
X
ABCC8 p.Thr229Ile 18025408:56:352
status: NEW
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ABCC8 p.Thr229Ile
X
ABCC8 p.Thr229Ile 18025408:56:480
status: NEW
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ABCC8 p.Glu208Lys
X
ABCC8 p.Glu208Lys 18025408:56:425
status: NEW
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ABCC8 p.Pro45Leu
X
ABCC8 p.Pro45Leu 18025408:56:309
status: NEW
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ABCC8 p.Val607Met
X
ABCC8 p.Val607Met 18025408:56:418
status: NEW
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ABCC8 p.Asp209Asn
X
ABCC8 p.Asp209Asn 18025408:56:538
status: NEW
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ABCC8 p.Val215Ile
X
ABCC8 p.Val215Ile 18025408:56:412
status: NEW
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Doses Table 1-Clinical characteristics of patients with SUR1 mutations according to success of treatment with sulfonylureas Characteristic All patients Patients with successful sulfonylurea treatment Patients with unsuccessful sulfonylurea treatment P* n 27 23 4 Mutation (number of patients) NA V86Gߤ, P45L/G1401R- (2)ߤ, D209E (3)ߤ, T229I/V1523Lߤ, Q211Kߤ, V86A (2)ߤ, E1507G, V215I/V607M, E208K/Y263Dߤ, R1380L (2)ߥ, D212I (3)&#a7;, T229I/T229Iߥ, R1183W&#a7;, L225Pߤ, R826W, and D209N F132L (2)ߤ, F132Vߤ, and N72Sߤ (mosaic). Login to comment
75 ABCC8 p.Phe132Leu
X
ABCC8 p.Phe132Leu 18025408:75:37
status: NEW
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ABCC8 p.Phe132Val
X
ABCC8 p.Phe132Val 18025408:75:27
status: NEW
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Two of these patients with F132V and F132L mutations had increased C-peptide levels following the transfer, but it was decided that the response was insufficient to discontinue insulin. Login to comment
77 ABCC8 p.Phe132Leu
X
ABCC8 p.Phe132Leu 18025408:77:37
status: NEW
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ABCC8 p.Phe132Val
X
ABCC8 p.Phe132Val 18025408:77:27
status: NEW
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Two of these patients with F132V and F132L mutations had increased C-peptide levels following the transfer, but it was decided that the response was insufficient to discontinue insulin. Login to comment