ABCC8 p.Val587Gly
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PMID: 26568660
[PubMed]
Takeda R et al: "A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide."
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Sentence
Comment
16
Sequencing analysis revealed a novelheterozygousmissensemutation(p.V587G) in exon 12 of the patient`s ABCC8 gene, but this mutation was not detected in his parents.
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ABCC8 p.Val587Gly 26568660:16:67
status: NEW