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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7490419/
https://ncbi.nlm.nih.gov/pubmed/33014402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00112-y
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