ABCC6 p.Arg1495Cys
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PMID: 12673275
[PubMed]
Hu X et al: "ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum."
No.
Sentence
Comment
83
In PXE patients of pedigree P 26095, detailed DNA and RNA analyses revealed one allele with a mutation (R1495C) as well as a wild-type allele.
X
ABCC6 p.Arg1495Cys 12673275:83:104
status: NEW84 The R1495C mutation segregates through the maternal line, since a nephew of the mother carries the mutation also.
X
ABCC6 p.Arg1495Cys 12673275:84:4
status: NEW100 (b) The R1495C mutation abolishes a AciI restriction site in the cDNA: Wild type sequences are cut and result in AciI fragments of 310 and 30 bp; R1495C mutated fragments result in a single AciI fragment of 340 bp.
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ABCC6 p.Arg1495Cys 12673275:100:8
status: NEWX
ABCC6 p.Arg1495Cys 12673275:100:146
status: NEW
No.
Sentence
Comment
91
In a third family, the three affected sibs were heterozygous for the maternal inherited R1495C mutation.
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ABCC6 p.Arg1495Cys 15086542:91:88
status: NEW
PMID: 15645653
[PubMed]
Noji Y et al: "Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)."
No.
Sentence
Comment
92
inherited p.R1495C mutation.
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ABCC6 p.Arg1495Cys 15645653:92:12
status: NEW