Philippe Touraine
AuthID: R-00J-NN0
1
TITLE: 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) Full Text
AUTHORS: Elena J Tucker; Rocio Rius; Sylvie Jaillard; Katrina Bell; Phillipa J Lamont; Andre Travessa; Juliette Dupont; Lurdes Sampaio; Jerome Dulon; Sandrine Vuillaumier Barrot; Sandra Whalen; Arnaud Isapof; Tanya Stojkovic; Susana Quijano Roy; Gorjana Robevska; Jocelyn van den Bergen; Chloe Hanna; Andrea Simpson; Katie Ayers; David R Thorburn; ...More
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 10
AUTHORS: Elena J Tucker; Rocio Rius; Sylvie Jaillard; Katrina Bell; Phillipa J Lamont; Andre Travessa; Juliette Dupont; Lurdes Sampaio; Jerome Dulon; Sandrine Vuillaumier Barrot; Sandra Whalen; Arnaud Isapof; Tanya Stojkovic; Susana Quijano Roy; Gorjana Robevska; Jocelyn van den Bergen; Chloe Hanna; Andrea Simpson; Katie Ayers; David R Thorburn; ...More
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 10
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