論文

国際誌
2020年

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Human genome variation
  • Nobuhiro Hashimoto
  • Sumito Dateki
  • Eri Suzuki
  • Takatoshi Tsuchihashi
  • Aiko Isobe
  • Sari Banno
  • Tomoka Kageyama
  • Naonori Maeda
  • Naomi Hatabu
  • Rieko Sato
  • Masashi Miharu
  • Hisayo Fujita
  • Osamu Komiyama
  • Hitomi Shimizu
  • Tomonobu Hasegawa
  • Kazuki Yamazawa
  • 全て表示

7
開始ページ
25
終了ページ
25
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41439-020-00112-y

Sitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and accelerated atherosclerosis. In this study, we report a novel nonsense single-nucleotide variant, c.225G > A (p.Trp75*), and an East Asian population-specific missense multiple-nucleotide variant, c.1256_1257delTCinsAA (p.Ile419Lys), in the ABCG8 gene in a compound heterozygous state observed in a Japanese girl with sitosterolemia.

リンク情報
DOI
https://doi.org/10.1038/s41439-020-00112-y
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/33014402
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490419
ID情報
  • DOI : 10.1038/s41439-020-00112-y
  • PubMed ID : 33014402
  • PubMed Central 記事ID : PMC7490419

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