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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...

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Detalles Bibliográficos
Autores principales: Fang, Jia-Xi, Zhang, Jin-Shi, Wang, Min-Min, Liu, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
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