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

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...

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Detalhes bibliográficos
Main Authors: Bonifati, V, Lucking, C, Fabrizio, E, Periquet, M, Meco, G, Brice, A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1763498/
https://ncbi.nlm.nih.gov/pubmed/11561042
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.71.4.531
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