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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Metabolic Diseases and LDLR[original query]
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Journal of inherited metabolic disease 2007 Apr 30 (2): 239-47.
Widhalm K, Dirisamer A, Lindemayr A, Kostner
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