Known pathogenic mutations in three FH-linked genes (n = 69).
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*Nucleotide location number was assigned according to the low-density lipoprotein receptor (LDLR; NM_000527), apolipoprotein B (APOB; NM_000384), and proprotein convertase subtilisin/kexin type 9 (PCSK9; NM_174936) mRNA sequences.†A patient (P49) with p.R257W (homozygote) and p.D589N (homozygote).‡Screening the remaining cohort by Sanger sequencing identified three more patients with p.P685L.Variants were characterized in published studies and validated in the present study by Sanger sequencing.Known pathogenic mutations in three FH-linked genes (n = 69).
创建时间：
2015-12-03
