Article

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson’s Disease: a genetic screening study

2024-06-15

Abstract excerpt

<h4>Background</h4> Mutations within the genes PRKN and PINK1 are the leading cause of early onset autosomal recessive Parkinson’s disease (PD). However, the genetic cause of most early-onset PD (EOPD) cases still remains unresolved. Long-read sequencing has successfully identified many pathogenic structural variants that cause disease, but this technology has not been widely applied to PD. We recently identified...

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Literature Corpus work: 29041bd4-0f2a-53c1-8ffc-a27280c8d2c8
DOI: 10.1101/2024.06.14.24308784

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