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A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome
BACKGROUND: Primary hyperoxaluria(PH)is a rare autosomal recessive genetic disease that contains three subtypes (PH1, PH2 and PH3). Approximately 80% of PH patients has been reported as subtype PH1, this subtype of PH has been related to a higher risk of renal failure at any age. Several genetic stu...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945658/ https://www.ncbi.nlm.nih.gov/pubmed/33691640 http://dx.doi.org/10.1186/s12882-021-02276-3 |