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Article

A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.

Clinical genetics - 1 Apr 1997

Lombardi P, Defesche J C, Kamerling S W, Kastelein J J, Havekes L M

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 9184256
DOI: 10.1111/j.1399-0004.1997.tb02473.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.PMID 9184256Read ↗

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Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.Semantic proximity Read ↗

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A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.Semantic proximity Read ↗

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.Semantic proximity Read ↗

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Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.Semantic proximity Read ↗

Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.Semantic proximity Read ↗

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.Semantic proximity Read ↗

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