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Kazuo Umetsu

Researcher at Yamagata University

Publications -  177
Citations -  3797

Kazuo Umetsu is an academic researcher from Yamagata University. The author has contributed to research in topics: Population & Gene. The author has an hindex of 29, co-authored 177 publications receiving 3600 citations.

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Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A

TL;DR: Researchers studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients, six of them were novel and one of them was a de novo mutation.
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Two universal primer sets for species identification among vertebrates.

TL;DR: Two primer sets were designed based on the conserved regions of the 12S and 16S rRNA loci detected by the comprehensive sequence comparison among 30 mammalian whole mitochondrial genomes and successfully amplified the expected PCR products from various kinds of vertebrates.
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Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese.

TL;DR: The data suggest that the high frequency of the Gly71Arg mutation of the B‐UGT gene is associated with high incidence of neonatal hyperbilirubinemia in Japanese, Korean and Chinese populations.
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The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

TL;DR: Close to one million single-nucleotide polymorphisms for the Ainu and the Ryukyuan are determined, and the dual structure model on the Japanese Archipelago populations clearly support, though the origins of the Jomon and the Yayoi people still remain to be solved.