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Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation: importance of DNA collection for post‐mortem diagnosis
Author(s) -
GROPMAN ANDREA L.
Publication year - 2011
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2011.03920.x
Subject(s) - mitochondrial dna , mitochondrion , context (archaeology) , mitochondrial disease , biology , respiratory chain , oxidative phosphorylation , physiology , bioinformatics , medicine , genetics , gene , biochemistry , paleontology