Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter

Journal of Medical Genetics

Volumn 50, Issue 4, 2013, Pages 240-245

  Edvardson, Simon ^a   Porcelli, Vito ^b   Jalas, Chaim ^c   Soiferman, Devorah ^a   Kellner, Yuval ^d   Shaag, Avraham ^a   Korman, Stanley H ^a   Pierri, Ciro Leonardo ^b   Scarcia, Pasquale ^b   Fraenkel, Nitay D ^e   Segel, Reeval ^f   Schechter, Abraham ^g   Frumkin, Ayala ^a   Pines, Ophry ^d   Saada, Ann ^a   Palmieri, Luigi ^b,h   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF BARI   (Italy)

^c Bonei Olam   (United States)

^d HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^e Alyn Orthopaedic Hospital and Rehabilitation Centre for Physically Handicapped Children Israel   (Israel)

^f SHAARE ZEDEK MEDICAL CENTER   (Israel)

^g Leumit Research Institue   (Israel)

^h CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; CITRIC ACID; LIPOSOME; REACTIVE OXYGEN METABOLITE;

ARTICLE; CITRIC ACID CYCLE; CONTROLLED STUDY; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FIBROBLAST; FUNGAL STRAIN; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRION; MUTATION; OPTIC NERVE HYPOPLASIA; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; STRESS; URINE; YEAST;

ADOLESCENT; AGENESIS OF CORPUS CALLOSUM; ANION TRANSPORT PROTEINS; CARRIER PROTEINS; FEMALE; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION; OPTIC NERVE;

EID: 84878851926     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101485     Document Type: Article

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