To investigate the prevalence and genotype-phenotype correlations of phosphatase and
tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD)
patients, we analyzed 1700 patients (842 familial PD and 858 sporadic PD patients from
Japanese origin). We screened the entire exon and exon-intron boundaries of PINK1 using
Sanger sequencing and target sequencing by Ion torrent system. We identified 30 patients
with heterozygous variants, 3 with homozygous variants, and 3 with digenic variants of …

abstract To investigate the prevalence and genotype-phenotype correlations of phosphatase
and tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD)
patients, we analyzed 1700 patients (842 familial PD and 858 sporadic PD patients from
Japanese origin). We screened the entire exon and exon-intron boundaries of PINK1 using
Sanger sequencing and target sequencing by Ion torrent system. We identified 30 patients
with heterozygous variants, 3 with homozygous variants, and 3 with digenic variants of …