Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

European Journal of Human Genetics

Volumn 15, Issue 7, 2007, Pages 779-783

  Hakonen, Anna H ^a   Davidzon, Guido ^b   Salemi, Renato ^c   Bindoff, Laurence A ^d   Van Goethem, Gert ^e,f   DiMauro, Salvatore ^b   Thorburn, David R ^c   Suomalainen, Anu ^a,g  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NewYork Presbyterian Hospital   (United States)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF BERGEN   (Norway)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DNA DIRECTED DNA POLYMERASE GAMMA; GLYCINE; SERINE; THREONINE; TRYPTOPHAN;

ALPERS DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRALIA; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEREDITARY ATAXIA; HETEROZYGOTE; HUMAN; MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME; NEW ZEALAND; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; UNITED STATES;

AUSTRALIA; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA-DIRECTED DNA POLYMERASE; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FOUNDER EFFECT; GAIT ATAXIA; HAPLOTYPES; HUMANS; NEW ZEALAND; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; UNITED STATES;

EID: 34250834964     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201831     Document Type: Article

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