[Studies of pathogenicity and characterization of molecular phenotype caused by mutations in human mitochondrial DNA].

Article

[Studies of pathogenicity and characterization of molecular phenotype caused by mutations in human mitochondrial DNA].

Revista de neurologia - 1 Apr 1998

Bornstein B, Enríquez J A, Montoya J, Garesse R

Abstract excerpt

Mitochondrial DNA evolves and accumulates mutations more rapidly than nuclear DNA. These nucleotide variation may produce neutral polymorphisms or affect to functional conserved positions being very deleterious. On the other hand the relation between the type of mutation (genotype) and the observ...

Topics

Bone Neoplasms
DNA, Mitochondrial
Fibroblasts
Humans
MERRF Syndrome
Osteosarcoma
Phenotype
Point Mutation

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