A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein

Molecular Genetics and Metabolism

Volumn 112, Issue 1, 2014, Pages 25-29

  Ersoy Tunali, Nagehan ^a   Marobbio, Carlo M T ^b   Tiryakioǧlu, N Ozan ^a   Punzi, Giuseppe ^b   Saygili, Seha K ^c   Önal, Hasan ^d   Palmieri, Ferdinando ^b  

^a HALIC UNIVERSITY   (Turkey)

^b UNIVERSITY OF BARI   (Italy)

^c ISTANBUL UNIVERSITY   (Turkey)

^d Kanuni Sultan Suleyman Training and Research Hospital   (Turkey)

Author keywords

HHH syndrome; Homocitrullinuria; Hyperammonemia; Hyperornithinemia; Mitochondrial ornithine carrier; SLC25A15

Indexed keywords

BENZOIC ACID; CARRIER PROTEIN; CITRULLINE; GENOMIC DNA; MUTANT PROTEIN; ORNITHINE CARRIER 1; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; SLC25A15 PROTEIN, HUMAN;

ANGER; ARTICLE; CASE REPORT; CHILD; CONFUSION; DNA SEQUENCE; ESCHERICHIA COLI; GAIT DISORDER; GENE; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; MALE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN RESTRICTION; PROTEIN TRANSPORT; SACCHAROMYCES CEREVISIAE; SCHOOL CHILD; SLC25A15 GENE; SPEECH DISORDER; TURKEY (REPUBLIC); COMPLICATION; GENETICS; METABOLISM; MITOCHONDRION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHYSIOLOGY; POINT MUTATION; SEQUENCE ALIGNMENT; UREA CYCLE DISORDER;

AMINO ACID TRANSPORT SYSTEMS, BASIC; CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MITOCHONDRIA; POINT MUTATION; SEQUENCE ALIGNMENT; UREA CYCLE DISORDERS, INBORN;

EID: 84899633300     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.03.002     Document Type: Article

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