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Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease
To study the relationship between genotype and clinical phenotype of major gene mutation sites in patients with Wilson disease (WD). Clinical and laboratory data were collected from 40 children with WD admitted to the hospital by high-pass sequencing. The basic clinical data of patients included the...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919422/ https://www.ncbi.nlm.nih.gov/pubmed/31804371 http://dx.doi.org/10.1097/MD.0000000000018284 |