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

Persistence of the common Hartnup disease D173N allele in populations of European origin.

Annals of human genetics - 1 Nov 2007

Azmanov Dimitar N, Rodgers Helen, Auray-Blais Christiane, Giguère Robert, Bailey Charles, Bröer Stefan, Rasko John E J, Cavanaugh Juleen A

Abstract excerpt

Hartnup disorder is an aminoaciduria that results from mutations in the recently described gene SLC6A19 on chromosome 5p15.33. The disease is inherited in a simple recessive manner and ten different mutations have been described to date. One mutation, the D173N allele, is present in 42% of Hartnup chromosomes from apparently unrelated families from both Australia and North America. We report an investigation of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Amino Acid Transport Systems, Neutral

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 5

Share to Founder Effect

Share to Genes, Recessive

Share to Microsatellite Repeats

Share to Minisatellite Repeats

Share to White People

Source

Identifiers

PMID: 17555458
DOI: 10.1111/j.1469-1809.2007.00375.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Persistence of the common Hartnup disease D173N allele in populations of European origin.PMID 17555458Read ↗

Further evidence for allelic heterogeneity in Hartnup disorder.Semantic proximity Read ↗

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.Semantic proximity Read ↗

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.Semantic proximity Read ↗

Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5.Semantic proximity Read ↗

Homozygosity Mapping to Chromosome 5p15 of a Gene Responsible for Hartnup DisorderSemantic proximity Read ↗

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.Semantic proximity Read ↗

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

Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.Semantic proximity Read ↗

Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.Semantic proximity Read ↗

Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension.Semantic proximity Read ↗

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.Semantic proximity Read ↗

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.Semantic proximity Read ↗

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