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A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next-generation sequencing and Sanger sequencing
Wilson disease (WD) is a rare autosomal recessive genetic disorder that causes abnormal copper metabolism, resulting in pathological accumulation of copper in the liver, brain and other organs. Mutations in the ATPase copper transporter 7B (ATP7B) gene, which encodes a membrane P-type adenosine trip...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896306/ https://www.ncbi.nlm.nih.gov/pubmed/31746411 http://dx.doi.org/10.3892/mmr.2019.10830 |