2020年
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
Human genome variation
- 巻
- 7
- 号
- 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
- ID情報
-
- DOI : 10.1038/s41439-020-00112-y
- PubMed ID : 33014402
- PubMed Central 記事ID : PMC7490419