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Description
142 Eighteen families with HK deficiency have been described to date, and gene changes have been characterized in only four patients.32,33,56,90,186 Three amino acid substitutions in HK are known to date to affect enzyme stability (p.Leu529Ser) 32,33 or the enzymes active site (p.Thr680Ser)
Trophoblast organoids were derived with minimal differences in medium
In a study of early-onset Parkinsons disease (EOPD) patients, MSP assessed the methylation status of the SNCA and PARK2 gene promoter regions in 91 EOPD patients and 52 healthy controls (64)
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