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Phenotype–genotype correlation in clinically diagnosed recessive cornea plana

✍ Scribed by Arif O. Khan; Mohammed A. Aldahmesh; Brian F. Meyer; Fowzan S. Alkuraya

Book ID
116591366
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
41 KB
Volume
16
Category
Article
ISSN
1528-3933

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## Abstract We screened for mutations in the __PARKIN__, __DJ‐1__, and __PINK1__ genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in __PARKIN__ (three compound heterozygou