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Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations

PARK2 mutations are the most common cause of early-onset Parkinson’s disease. No genotype-phenotype correlation exists, and phenotypic variability is quite common. We report two siblings with confirmed identical compound heterozygous mutations in the PARK2 gene manifesting strikingly different pheno...

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Detalhes bibliográficos
Publicado no:Brain Sci
Main Authors: Isaacs, David, Claassen, Daniel, Bowman, Aaron B., Hedera, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5532584/
https://ncbi.nlm.nih.gov/pubmed/28672806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci7070071
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