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

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

Neuroscience letters - 2 Feb 2001

Pineda-Trujillo N, Carvajal-Carmona L G, Buriticá O, Moreno S, Uribe C, Pineda D, Toro M, García F, Arias W, Bedoya G, Lopera F, Ruiz-Linares A

Abstract excerpt

We report the molecular characterization of three multiplex families and a sporadic case of juvenile Parkinsonism identified in the province of Antioquia (Colombia). Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes. Sequence analysis revealed a novel G...

Read the complete abstract on PubMed

Topics

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

Share to Colombia
Share to Cysteine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Genetic Heterogeneity

Share to Ligases

Share to Parkinsonian Disorders

Share to Tyrosine

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 11163284
DOI: 10.1016/s0304-3940(00)01733-x

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

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.PMID 11163284Read ↗

Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson's disease.Semantic proximity Read ↗

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.Semantic proximity Read ↗

Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.Semantic proximity Read ↗

Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.Semantic proximity Read ↗

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.Semantic proximity Read ↗

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.Semantic proximity Read ↗

Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals.Semantic proximity Read ↗

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.Semantic proximity Read ↗

Parkin gene causing benign autosomal recessive juvenile parkinsonism.Semantic proximity Read ↗

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonismSemantic proximity Read ↗

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.Semantic proximity Read ↗

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.Semantic proximity Read ↗

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