Research progress on genotype and phenotype of primary hyperoxaluria type 3 / 国际外科学杂志
International Journal of Surgery
; (12): 133-137, 2024.
Article
em Zh
| WPRIM
| ID: wpr-1018103
Biblioteca responsável:
WPRO
ABSTRACT
Primary hyperoxaluria type 3 (PH3) is a rare monogenic nephrolithiasis caused by HOGA1 gene mutations. With the advancement of technology of genetic testing, the mutation site of PH3 patients can be clearly located, and the characteristics of genotype, phenotype, genotype-phenotype correlations are also gradually recognized. With the development of gene therapy, novel gene editing techniques and RNA interference treatments offer hope for the future of PH3 treatment. In this paper, the characteristics of genotype and phenotype, genotype-phenotype correlations of PH3 will be summarized and its future treatment will be prospected.
Texto completo:
1
Base de dados:
WPRIM
Idioma:
Zh
Revista:
International Journal of Surgery
Ano de publicação:
2024
Tipo de documento:
Article