ABCC6 p.Asn370Asp
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PMID: 16086317
[PubMed]
Miksch S et al: "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."
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Sentence
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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.Asn370Asp 16086317:158:90
status: NEW160 In the second round we were again able to identify the mutations p.S317R, p.L355R, p.T364R, p.N370D, and p.R391G by nested sequencing of the long-range PCR products for exons 8 and 9, and to demonstrate their cosegregation with the disease haplotype.
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ABCC6 p.Asn370Asp 16086317:160:94
status: NEW