Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations

BACKGROUND: Primary hyperoxaluria (PH) is a rare heterogeneous, autosomal recessive disorder of glyoxylate metabolism. It is characterized by excessive hepatic production of oxalate resulting in a wide spectrum of clinical, imaging, and functional presentation. The characteristic features of PH comp...

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Detalles Bibliográficos
Autores principales: Ahmed, Hoda A., Fadel, Fatina I., Abdel Mawla, Mohamed A., Salah, Doaa M., Fathallah, Mohamed Gamal, Amr, Khalda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356549/
https://www.ncbi.nlm.nih.gov/pubmed/35661454
http://dx.doi.org/10.1002/mgg3.1992

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356549/
https://www.ncbi.nlm.nih.gov/pubmed/35661454
http://dx.doi.org/10.1002/mgg3.1992

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