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p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs. We previously reported a family with three consecutive generations affected by WD that carries the varia...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358663/ https://www.ncbi.nlm.nih.gov/pubmed/32685348 http://dx.doi.org/10.1002/jmd2.12127 |