Melas associated with mutations in the POLG1 gene

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Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2007-05, Vol.68 (20), p.1741-1742
Hauptverfasser:	DESCHAUER, M, TENNANT, S, ROKICKA, A, HE, L, KRAYA, T, TURNBULL, D. M, ZIERZ, S, TAYLOR, R. W
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Amino Acid Substitution Biological and medical sciences Biopsy Blotting, Southern Brain - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis DNA Polymerase gamma DNA, Mitochondrial - genetics DNA-Directed DNA Polymerase - genetics Exons - genetics False Negative Reactions Genes, Recessive Heterozygote Humans Magnetic Resonance Imaging Male Medical sciences MELAS Syndrome - genetics Muscle Fibers, Skeletal - chemistry Mutation, Missense Neurology Phenotype Point Mutation Sequence Deletion
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