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

Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample.

Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 1995

Schuster H, Keller C, Wolfram G, Zöllner N

Abstract excerpt

Mutational defects in the LDL receptor are responsible for familial hypercholesterolemia (FH); thus far more than 150 mutations have been described. Nevertheless, systematic searches among the Germans have not been conducted. We used single-strand conformational polymorphism and polymerase chain reaction to find mutations in 10 index patients and in 40 other individuals with heterozygous FH. Our screen in the 10...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child
Share to Child, Preschool

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

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 7489239
DOI: 10.1161/01.atv.15.12.2176

Provenance

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample.PMID 7489239Read ↗

Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.Semantic proximity Read ↗

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.Semantic proximity Read ↗

The molecular basis of familial hypercholesterolemia in The Netherlands.Semantic proximity Read ↗

The study of familial hypercholesterolemia in Italy: A narrative review.Semantic proximity Read ↗

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.Semantic proximity Read ↗

Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.Semantic proximity Read ↗

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.Semantic proximity Read ↗

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.Semantic proximity Read ↗

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.Semantic proximity Read ↗

Molecular genetics of familial hypercholesterolemia in Israel.Semantic proximity Read ↗

Molecular characterization of familial hypercholesterolemia in German and Greek patients.Semantic proximity Read ↗

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.Semantic proximity Read ↗

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