Expanding gray zones in ERCC2 mutations; a patient with XP phenotype and acute post-infectious leukodystrophy
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DOI: 10.32677/ejms.2019.v04.i04.005
Abstract: Mutations in ERCC2, a Nucleotide Excision Repair (NER) gene leads to Xeroderma pigmentosum (XP), Trichothiodystrophy (TTD) and Cockayne Syndrome (CS) phenotypes with various severities. While patients undergo XP disease are primarily suffering from skin hypersensitivity… read more here.
Keywords: acute; zones ercc2; expanding gray; leukodystrophy ... See more keywords