ABCC6 p.Glu1245Asp
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PMID: 16086317
[PubMed]
Miksch S et al: "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."
No.
Sentence
Comment
177
The newly identified splice-site point mutations are located in IVS 24 (c.3507-1G4A), exon 26 (c.3735G4T, E1245D), (c.3735G4A, E1245E), and IVS 27 (c.3883-6G4A).
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ABCC6 p.Glu1245Asp 16086317:177:106
status: NEW