ABCC6 p.Arg1339Gln
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 16086317
[PubMed]
Miksch S et al: "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."
No.
Sentence
Comment
146
Further mutations with founder alleles among the family chromosomes analyzed are the c.4016G4A (p.R1339Q) mutation, the c.1553G4A (p.R518Q) mutation, and the c.27871 1G4T splice donor site mutation (Supplementary Table S2).
X
ABCC6 p.Arg1339Gln 16086317:146:98
status: NEW