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A Mitochondrial Translation Defect Identified by Whole‐Exome Sequencing Expands the Phenotypic Spectrum for MARS2
Author(s) -
Wangler Michael,
Bayat Vafa,
Bellen Hugo
Publication year - 2015
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.22811
Subject(s) - biology , genetics , exome , exome sequencing , mitochondrial dna , missense mutation , phenotype , gene
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