Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

European Journal of Human Genetics

Volumn 11, Issue 11, 2003, Pages 896-898

  Crimi, Marco ^a   Del Bo, Roberto ^a   Galbiati, Sara ^a   Sciacco, Monica ^a   Bordoni, Andreina ^a   Bresolin, Nereo ^a,b   Comi, Giacomo Pietro ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

Author keywords

Haplotype; Macrodeletion; Mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BRAIN DISEASE; CELL ENERGY; CLINICAL FEATURE; CONTROLLED STUDY; DYSARTHRIA; DYSPHASIA; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC POLYMORPHISM; HAPLOTYPE; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RETINA DEGENERATION; SHORT STATURE;

AGE OF ONSET; DNA, MITOCHONDRIAL; HAPLOTYPES; HUMANS; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; POINT MUTATION; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

EID: 0242609815     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201056     Document Type: Article

References (8)

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