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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Bonifati, V, Lucking, C, Fabrizio, E, Periquet, M, Meco, G, Brice, A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2001
Aiheet:
Linkit: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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