LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance (Q34325396)

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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance
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    LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance (English)
    Christine L H Snozek
    Susan A Lagerstedt
    Teck K Khoo
    Melvyn Rubenfire
    William L Isley
    Laura J Train
    Linnea M Baudhuin

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