Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the low density lipoprotein receptor gene in Japanese patients with familial hypercholesterolemia.

Annals of the New York Academy of Sciences - 1 Jan 1990

Mabuchi H, Kajinami K, Fujita H, Koizumi J, Takeda R

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Deletion
Share to Homozygote
Share to Hyperlipoproteinemia Type II
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptors, LDL

Source

Identifiers

PMID: 2248452
DOI: 10.1111/j.1749-6632.1990.tb42310.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the low density lipoprotein receptor gene in Japanese patients with familial hypercholesterolemia.PMID 2248452Read ↗

Possible common mutations in the low density lipoprotein receptor gene in Chinese.Semantic proximity Read ↗

Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.Semantic proximity Read ↗

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.Semantic proximity Read ↗

Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients.Semantic proximity Read ↗

A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.Semantic proximity Read ↗

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.Semantic proximity Read ↗

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.Semantic proximity Read ↗

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

A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.Semantic proximity Read ↗

Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.Semantic proximity Read ↗

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.Semantic proximity Read ↗

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 ↗

⌁Select a neighboring publication to make it the new centre.