Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

Brain

Volumn 136, Issue 3, 2013, Pages 882-890

  Gerards, Mike ^a,b   Kamps, Rick ^a   Van Oevelen, Jo ^a   Boesten, Iris ^a   Jongen, Eveline ^a   De Koning, Bart ^a   Scholte, Hans R ^c   De Angst, Isabel ^c   Schoonderwoerd, Kees ^c   Sefiani, Abdelaziz ^d   Ratbi, Ilham ^d   Coppieters, Wouter ^e   Karim, Latifa ^e   De Coo, René ^c   Van Den Bosch, Bianca ^a   Smeets, Hubert ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

exome sequencing; gene mapping; Leigh syndrome; mitochondria; thiamine

Indexed keywords

THIAMINE DERIVATIVE;

ARTICLE; EXOME; FEMALE; GENE; GENE OVEREXPRESSION; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; IN VIVO STUDY; INFANT; LEIGH DISEASE; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; MOROCCO; NEWBORN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLC19A3 GENE;

EID: 84874828464     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt013     Document Type: Article

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