ArticleAmerican journal of human genetics1995

Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.

U M Koivisto et al.PubMed ↗Full text ↗

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