Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

Biochemical and Biophysical Research Communications

Volumn 415, Issue 2, 2011, Pages 300-304

  Bianchi, Marzia ^a   Rizza, Teresa ^a   Verrigni, Daniela ^a   Martinelli, Diego ^a   Tozzi, Giulia ^a   Torraco, Alessandra ^a   Piemonte, Fiorella ^a   Dionisi Vici, Carlo ^a   Nobili, Valerio ^a   Francalanci, Paola ^a   Boldrini, Renata ^a   Callea, Francesco ^a   Santorelli, Filippo Maria ^b   Bertini, Enrico ^a   Carrozzo, Rosalba ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Complex I; Hepatopathy; Mitochondrial disorders; MtDNA deletion; OXPHOS

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; BLOOD; BLOOD SAMPLING; CADAVER; CASE REPORT; CELL CULTURE; CHEMICAL ANALYSIS; CHILDHOOD; CHOLESTASIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ACTIVITY; FATTY LIVER; GENE DELETION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY; LACTIC ACIDOSIS; LIVER; LIVER CIRRHOSIS; LIVER DISEASE; LIVER FAILURE; LIVER FIBROSIS; LIVER HEMOSIDEROSIS; MEGALOBLASTIC ANEMIA; MOLECULAR DIAGNOSIS; MULTISYSTEM DISORDER; NUCLEOTIDE SEQUENCE; PANCREAS; PANCREAS INSUFFICIENCY; PANCYTOPENIA; PRIORITY JOURNAL; PROTEIN CONTENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK FACTOR; SKIN FIBROBLAST; SYSTEMIC DISEASE; WESTERN BLOTTING;

DNA, MITOCHONDRIAL; FATAL OUTCOME; HUMANS; INFANT; KEARNS-SAYRE SYNDROME; LIVER DISEASES; MITOCHONDRIAL MYOPATHIES; SEQUENCE DELETION;

EID: 84855901055     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.10.049     Document Type: Article

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