Patent ID: 6780587
Filing Date: 2004-08-24
Classification: C12Q

Abstract:
A method for screening a patient for the presence of a PXE mutation, the method comprising the steps of:a) interrogating an MRP6 nucleic acid in a patient sample for the presence of a mutation shown to be associated with PXE, wherein said mutation is selected from the group consisting of: i) at codon 1114, nucleotide 3341G>C; ii) at codon 1138, nucleotide 3413G>A; iii) at codon 1141, nucleotide 3421C>T; iv) at codon 1259, nucleotide 3775delT; v) at codon 1298, nucleotide 3892G>T; vi) at codon 1302, nucleotide 3904G>A; vii) at codon 1303, nucleotide 3907G>C; viii) at codon 1314, nucleotide 3940C>T; and ix) at codon 1321, nucleotide 3961G>A; and b) identifying said patient as having a PXE mutation if the mutation from step a) is detected in said MRP6 nucleic acid.