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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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