ABCC8 p.Cys6Ser
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PMID: 21199866
[PubMed]
Fukuda Y et al: "Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8."
No.
Sentence
Comment
301
A, a point mutation resulting in Cys-6 to Ser substitution in SUR1/ABCC8 was identified in one allele of a hyperinsulinemic patient as shown in the electropherogram.
X
ABCC8 p.Cys6Ser 21199866:301:33
status: NEW