Mutation loads in different tissues from six pathogenic mtDNA point mutations

Mitochondrion

Volumn 22, Issue , 2015, Pages 17-22

  O'Callaghan, María M ^a,c   Emperador, Sonia ^b,c   Pineda, Mercè ^a,c   López Gallardo, Ester ^b,c   Montero, Raquel ^a,c   Yubero, Delia ^a   Jou, Cristina ^a   Jimenez Mallebrera, Cecilia ^a,c   Nascimento, Andrés ^a,c   Ferrer, Isidre ^d   García Cazorla, Angels ^a,c   Ruiz Pesini, Eduardo ^b,c   Montoya, Julio ^b,c   Artuch, Rafael ^a,c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

MELAS; Mitochondrial diseases; Mitochondrial DNA point mutations; Mutation load; Urine

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGE DISTRIBUTION; ARTICLE; BLOOD; BLOOD SAMPLING; CHEEK MUCOSA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; FEMALE; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; RECURRENCE RISK; URINALYSIS; URINE; ADOLESCENT; AGED; BLOOD CELL; CYTOLOGY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; MIDDLE AGED; MOUTH MUCOSA; PATHOLOGY; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BLOOD CELLS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MOUTH MUCOSA; POINT MUTATION; URINE; YOUNG ADULT;

EID: 84924985960     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2015.03.001     Document Type: Article

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