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

N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients

1 Aug 2001

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 Folate and B Vitamins Research
Share to Metabolism and Genetic Disorders
Share to Porphyrin Metabolism and Disorders

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 11528502
DOI: 10.1038/sj.ejhg.5200675

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patientsPMID 11528502Read ↗

A common mutation among blacks with mut- methylmalonic aciduria.Semantic proximity Read ↗

[Genetic analysis of 21 cases of methylmalonic acidemia].Semantic proximity Read ↗

Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.Semantic proximity Read ↗

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.Semantic proximity Read ↗

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.Semantic proximity Read ↗

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.Semantic proximity Read ↗

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.Semantic proximity Read ↗

mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.Semantic proximity Read ↗

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemiaSemantic proximity Read ↗

Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband.Semantic proximity Read ↗

Three novel and six common mutations in 11 patients with methylmalonic acidemia.Semantic proximity Read ↗

Mutation analysis of the MCM gene in Korean patients with MMA.Semantic proximity Read ↗

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