ABCC1 p.Glu1507Asp
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PMID: 21617188
[PubMed]
Mannikko R et al: "Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes."
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79
We identified novel heterozygous ABCC8 mutations, E1507D (c.4521G.
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ABCC1 p.Glu1507Asp 21617188:79:50
status: NEW82 Proband 1 with the E1507D mutation weighed 2.9 kg at birth (42 weeks` gestation) and was diagnosed as insulin-dependent at 10 weeks.
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ABCC1 p.Glu1507Asp 21617188:82:19
status: NEW89 A family history of diabetes had not been reported for either proband, and testing of parental samples demonstrated that the E1507D and E1507G mutations had each arisen de novo in the proband.
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ABCC1 p.Glu1507Asp 21617188:89:125
status: NEW78 We identified novel heterozygous ABCC8 mutations, E1507D (c.4521G.
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ABCC1 p.Glu1507Asp 21617188:78:50
status: NEW81 Proband 1 with the E1507D mutation weighed 2.9 kg at birth (42 weeks` gestation) and was diagnosed as insulin-dependent at 10 weeks.
X
ABCC1 p.Glu1507Asp 21617188:81:19
status: NEW88 A family history of diabetes had not been reported for either proband, and testing of parental samples demonstrated that the E1507D and E1507G mutations had each arisen de novo in the proband.
X
ABCC1 p.Glu1507Asp 21617188:88:125
status: NEW