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Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report
BACKGROUND: Approximately 10% of adults and nearly all children who receive renal replacement therapy have inherited risk factors or are related to genetic factors. In the past, due to the limitations of detection technology and the nonspecific manifestations of uraemia, the etiological diagnosis is...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297417/ https://www.ncbi.nlm.nih.gov/pubmed/36051141 http://dx.doi.org/10.12998/wjcc.v10.i20.7068 |