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

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.

Journal of human genetics - 1 Jan 2010

Numata Sanae, Koda Yoshiro, Ihara Kenji, Sawada Tomo, Okano Yoshiyuki, Matsuura Toshinobu, Endo Fumio, Yoo Han-Wook, Arranz Jose A, Rubio Vicente, Wermuth Bendicht, Ah Mew Nicholas, Tuchman Mendel, Pinner Jason R, Kirk Edwin P, Yoshino Makoto

Abstract excerpt

We performed haplotype analysis using nine single nucleotide polymorphisms in the ornithine transcarbamylase gene to explore the ancestral origins of three mutations associated with late-onset phenotype in male patients: p.R40H, p.R277W and p.Y55D. Overall, 8 haplotypes were defined among 14 families carrying p.R40H, 5 families carrying p.R277W and 2 families with p.Y55D mutations. Of nine Japanese families...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evolution, Molecular

Share to Haplotypes

Share to Ornithine Carbamoyltransferase

Share to Ornithine Carbamoyltransferase Deficiency Disease

Share to White People

Source

Identifiers

PMID: 19893582
DOI: 10.1038/jhg.2009.113

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.PMID 19893582Read ↗

Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.Semantic proximity Read ↗

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.Semantic proximity Read ↗

Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.Semantic proximity Read ↗

Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193. Online.Semantic proximity Read ↗

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.Semantic proximity Read ↗

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.Semantic proximity Read ↗

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.Semantic proximity Read ↗

[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].Semantic proximity Read ↗

Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.Semantic proximity Read ↗

Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.Semantic proximity Read ↗

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.Semantic proximity Read ↗

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.Semantic proximity Read ↗

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