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Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number
Author(s) -
Finsterer Josef
Publication year - 2020
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.24121
Subject(s) - heteroplasmy , ptosis , biology , genetics , phenotype , mitochondrial dna , myopathy , disease , pathology , medicine , gene , pharmacology