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PMID: 15235502
Perdu J, Champion K, Emmerich J, Fiessinger JN
[Microvascular involvement in pseudoxanthoma elasticum. Capillaroscopic findings].
Presse Med. 2004 Apr 24;33(8):518-21., 2004-04-24
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
61
ABCC6 p.Arg1268Gln
X
ABCC6 p.Arg1268Gln 15235502:61:75
status:
NEW
view ABCC6 p.Arg1268Gln details
5 Germain DP, Perdu J, Remones V, Jeunemaître X. Homozygosity for the
R1268Q
Mutation in MRP6, the Pseudoxanthoma Elasticum Gene, Is Not Disease-Causing.
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