ABCC6 p.Gly129Glu
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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
158
However, there were also single mutations (p.G129E, p.L248F, p.S317R, p.L355R, p.T364R, p.N370D, and p.R391G) that did cosegregate with the disease haplotype in families in which they were observed, and were absent in 200 control chromosomes.
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ABCC6 p.Gly129Glu 16086317:158:45
status: NEW