Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
Author:
Funder
National Health and Medical Research Council
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-020-02176-w.pdf
Reference48 articles.
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4. Calvo SE, Clauser KR, Mootha VK (2016) MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res 44:D1251–D1257. https://doi.org/10.1093/nar/gkv1003
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