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Article

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.

Atherosclerosis - 1 Sept 2014

Mabuchi Hiroshi, Nohara Atsushi, Noguchi Tohru, Kobayashi Junji, Kawashiri Masa-aki, Inoue Takeshi, Mori Mika, Tada Hayato, Nakanishi Chiaki, Yagi Kunimasa, Yamagishi Masakazu, Ueda Kousei, Takegoshi Tadayoshi, Miyamoto Susumu, Inazu Akihiro, Koizumi Junji

Abstract excerpt

BACKGROUNDS: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by hypercholesterolemia, tendon xanthomas, and premature coronary heart disease. FH is caused by mutations of "FH genes," which include the LDL-receptor (LDLR), apolipoprotein B-100 (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9). We evaluated the usefulness of FH gene analysis for diagnosing homozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25014035
DOI: 10.1016/j.atherosclerosis.2014.06.005

Genes

PCSK9
LDLR
APOB

Variants

Provenance

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