Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome

Genes, Brain and Behavior

Volumn 12, Issue 8, 2013, Pages 812-820

  Blanco Grau, A ^a   Bonaventura Ibars, I ^b   Coll Canti J ^c   Melia M J ^a   Martinez, R ^a,d   Martinez Gallo M ^a   Andreu, A L ^a,d   Pinos T ^a,d   Garcia Arumi E ^a,d  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL MÚTUA DE TERRASSA   (Spain)

^c HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

ATP6; Cybrids; MtDNA; NARP syndrome; Novel mutation

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AMINO ACID SEQUENCE; ARTICLE; ATP6 GENE; CASE REPORT; CELL PROLIFERATION; DNA DETERMINATION; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MITOCHONDRIAL MEMBRANE POTENTIAL; NARP SYNDROME; PHENOTYPE; PRIORITY JOURNAL; WILD TYPE;

ATP6; CYBRIDS; MTDNA; NARP SYNDROME; NOVEL MUTATION;

ADENOSINE TRIPHOSPHATE; CELL LINE, TUMOR; CELL PROLIFERATION; DNA, MITOCHONDRIAL; FEMALE; GENE DOSAGE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION, MISSENSE; OXIDATIVE PHOSPHORYLATION; RETINITIS PIGMENTOSA;

EID: 84886798097     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/gbb.12089     Document Type: Article

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