ABCC8 p.Arg1436Cys
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PMID: 10615958
[PubMed]
Tanizawa Y et al: "Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1."
No.
Sentence
Comment
199
In our 86 Rb+ efflux studies, impairment of KATP channel function was modest with the R1420C mutation, while no channel activities were observed for the other two mutations, R1436C and I446fsdelT.
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ABCC8 p.Arg1436Cys 10615958:199:174
status: NEW200 This parallels clinical disease severities of these patients: patients with the R1420C mutation achieved seemingly spontaneous remission after a few months of medical therapy, whereas patients who had R1436C or I446fsdelT mutations required partial pancreatectomy.
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ABCC8 p.Arg1436Cys 10615958:200:201
status: NEW