ABCC6 p.Arg1418Gln
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PMID: 16086762
[PubMed]
Meyer S et al: "Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease."
No.
Sentence
Comment
51
These comprise three adjacent amino acid substitutions in exon 27 (Arg1268Gln, Arg1273Lys and Glu1293Lys) and a single Arg1418Gln exchange in exon 30 (Fig.
X
ABCC6 p.Arg1418Gln 16086762:51:119
status: NEW