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Article

Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2001

Bonifati V, Lücking C B, Fabrizio E, Periquet M, Meco G, Brice A

Abstract excerpt

The objective was to describe a family with autosomal recessive, early onset parkinsonism, with affected siblings carrying three different exon rearrangements in the parkin gene. The living affected siblings were personally examined. Molecular genetic analyses included exon dosage of the parkin gene using a semiquantitative multiplex polymerase chain reaction (PCR) protocol and haplotype analysis. The index case...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11561042
DOI: 10.1136/jnnp.71.4.531
PMCID: PMC1763498

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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