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

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 pop...

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Detalles Bibliográficos
Autores principales: Hashimoto, Nobuhiro, Dateki, Sumito, Suzuki, Eri, Tsuchihashi, Takatoshi, Isobe, Aiko, Banno, Sari, Kageyama, Tomoka, Maeda, Naonori, Hatabu, Naomi, Sato, Rieko, Miharu, Masashi, Fujita, Hisayo, Komiyama, Osamu, Shimizu, Hitomi, Hasegawa, Tomonobu, Yamazawa, Kazuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490419/
https://www.ncbi.nlm.nih.gov/pubmed/33014402
http://dx.doi.org/10.1038/s41439-020-00112-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490419/
https://www.ncbi.nlm.nih.gov/pubmed/33014402
http://dx.doi.org/10.1038/s41439-020-00112-y

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