ABCC8 p.Gly561Ser
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PMID: 7620154
[PubMed]
Hilbert L et al: "Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF."
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208
Furthermore, a point mutation affecting aa 561 (Gly561Ser)has been identifiedin a patient with type ATPOSITION 611 B vWD, now classified in type 2M,I7 characterized by no ristocetin-induced but normal botrocetin-induced binding to GP%. The corresponding Ser561rvWF showed the same platelet-dependent functions.40Lastly, another patient, reported to have a variant form of type 1 vWD and also displaying decreased ristocetin cofactor activity, was found to have the Phe6061le mutation very close to the mutations characterizedhere:' However, in this case, no studyof corresponding rvWF has yet been reported to confirm that this aa change is the mutation causing the loss of function.
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ABCC8 p.Gly561Ser 7620154:208:48
status: NEW