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

Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation.

Clinical chemistry and laboratory medicine - 1 Jan 2006

Park Jason Y, Narayan Srinivas B, Bennett Michael J

Abstract excerpt

BACKGROUND: Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a metabolic disorder that occurs at a key checkpoint of fatty acid metabolism. A new form of CPT1A deficiency caused by a mutation at nucleotide 1436 (C>T), resulting in an amino acid substitution of leucine for proline at positi...

Read the complete abstract on PubMed

Topics

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

Share to Biological Assay
Share to Carnitine O-Palmitoyltransferase
Share to Cytosine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leucine

Share to Lipid Metabolism

Share to Point Mutation

Share to Proline

Share to Thymine

Source

Identifiers

PMID: 16958601
DOI: 10.1515/CCLM.2006.196

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16958601-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation.PMID 16958601Read ↗

Novel mutations associated with carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.Semantic proximity Read ↗

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.Semantic proximity Read ↗

Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.Semantic proximity Read ↗

A novel mutation identified in carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene.Semantic proximity Read ↗

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.Semantic proximity Read ↗

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.Semantic proximity Read ↗

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.Semantic proximity Read ↗

A simple and rapid polymerase chain reaction-based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients.Semantic proximity Read ↗

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.Semantic proximity Read ↗

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