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

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

Molecular genetics and metabolism - 1 May 2001

Berger I, Shaag A, Anikster Y, Baumgartner E R, Bar-Meir M, Joseph A, Elpeleg O N

Abstract excerpt

Three novel mutations (IVS8+3a --> g, N219Y, and E414X) were identified in 6 unrelated patients with mut(0) methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a --> g mutation may contribute to their later age of onset (3-11 months of...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Amino Acid Metabolism, Inborn Errors
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Israel

Share to Methylmalonic Acid

Share to Methylmalonyl-CoA Mutase

Source

Identifiers

PMID: 11350191
DOI: 10.1006/mgme.2001.3166

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11350191-2026-09-02.2. 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

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.PMID 11350191Read ↗

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 ↗

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

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

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

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

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.Semantic proximity Read ↗

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

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.Semantic proximity Read ↗

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.Semantic proximity Read ↗

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.Semantic proximity Read ↗

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

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