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

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.

Clinical genetics - 1 Aug 2012

Aminoff A, Gunnar E, Barbaro M, Mannila M N, Duponchel C, Tosi M, Robinson K L, Hernell O, Ehrenborg E

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 Adolescent
Share to Carrier Proteins
Share to Chromosomes, Human, Pair 4
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Mutation

Share to Protein Conformation

Share to Uniparental Disomy

Source

Identifiers

PMID: 22150066
DOI: 10.1111/j.1399-0004.2011.01828.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.PMID 22150066Read ↗

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.Semantic proximity Read ↗

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.Semantic proximity Read ↗

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.Semantic proximity Read ↗

Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.Semantic proximity Read ↗

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.Semantic proximity Read ↗

Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.Semantic proximity Read ↗

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.Semantic proximity Read ↗

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).Semantic proximity Read ↗

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.Semantic proximity Read ↗

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.Semantic proximity Read ↗

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.Semantic proximity Read ↗

A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.Semantic proximity Read ↗

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