ABCC6 p.Leu248Phe

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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.Leu248Phe 16086317:158:54
status: NEW
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