Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) or member 8 (ABCG8) genes. This leads to abnormal functions of the transporter sterolin-1 protein encoded by ABCG5 and st...

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Detalles Bibliográficos
Autores principales: Shen, Ming-fang, Hu, Ya-nan, Chen, Wei-xiang, Liao, Li-sheng, Wu, Min, Wu, Qiu-yan, Zhang, Jian-hui, Zhang, Yan-ping, Luo, Jie-wei, Lin, Xin-fu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086554/
https://www.ncbi.nlm.nih.gov/pubmed/35557526
http://dx.doi.org/10.3389/fcvm.2022.887618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086554/
https://www.ncbi.nlm.nih.gov/pubmed/35557526
http://dx.doi.org/10.3389/fcvm.2022.887618

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