ABCC8 p.Val215Ile
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PMID: 18025408
[PubMed]
Rafiq M et al: "Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations."
No.
Sentence
Comment
54
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).
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ABCC8 p.Val215Ile 18025408:54:418
status: NEW56 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).
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ABCC8 p.Val215Ile 18025408:56:412
status: NEW
PMID: 21981029
[PubMed]
Rubio-Cabezas O et al: "KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life."
No.
Sentence
Comment
46
A third Caucasian female patient was found to be a compound heterozygote for two mutations in ABCC8; V215I (c.643G>A) and V607M (c.1819G>A).
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ABCC8 p.Val215Ile 21981029:46:101
status: NEW