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)

AuthID
P-00S-54J
23
Author(s)
Tucker, EJ
·
Rius, R
·
Jaillard, S
·
Bell, K
·
Travessa, A
·
Dupont, J
·
Dulon, J
·
Vuillaumier Barrot, S
·
[+3]·
van den Bergen, J
·
Hanna, C
·
Simpson, A
·
Ayers, K
·
Thorburn, DR
·
Christodoulou, J
·
Sinclair, AH
Tipo de Documento
Article
Year published
2020
Publicado
in HUMAN GENETICS, ISSN: 0340-6717
Volume: 139, Número: 10, Páginas: 1325-1343 (19)
Indexing
Publication Identifiers
Pubmed: 32399598
SCOPUS: 2-s2.0-85084646902
Wos: WOS:000532127000001
Source Identifiers
ISSN: 0340-6717
Export Publication Metadata
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Name Order Nome   Name Order Nome   Name Order Nome
1 Tucker, EJ;   2 Rius, R;   3 Jaillard, S;
4 Bell, K;   5 Lamont, PJ;   6 Travessa, A;
7 Dupont, J;   8 Sampaio, L;   9 Dulon, J;
10 Vuillaumier Barrot, S;   11 Whalen, S;   12 Isapof, A;
13 Stojkovic, T;   14 Quijano Roy, S;   15 Robevska, G;
16 van den Bergen, J;   17 Hanna, C;   18 Simpson, A;
19 Ayers, K;   20 Thorburn, DR;   21 Christodoulou, J;
22 Touraine, P;   23 Sinclair, AH;