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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...
Tallennettuna:
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Group
2001
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| 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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