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De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
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De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. Mitochondrion. 2009 Sep; 9(5):340-5.
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PubMed
subject areas
Base Sequence
Codon, Nonsense
Diffuse Cerebral Sclerosis of Schilder
DNA Polymerase gamma
DNA-Directed DNA Polymerase
Haplotypes
Humans
Infant
Male
Molecular Sequence Data
Mutagenesis, Insertional
Mutation
Point Mutation
RNA Splicing
RNA Stability
authors with profiles
Sherine Swee Lin Chan