Cargando…
Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis
The spectra of underlying genetic variants for various clinical entities including focal segmental glomerulosclerosis (FSGS) vary among different populations. Here we described the clinical and genetic characteristics of biopsy-proven FSGS patients in Thailand. Patients with FSGS pathology, without...
Autores principales: | Isaranuwatchai, Suramath, Chanakul, Ankanee, Ittiwut, Chupong, Ittiwut, Rungnapa, Srichomthong, Chalurmpon, Shotelersuk, Vorasuk, Suphapeetiporn, Kanya, Praditpornsilpa, Kearkiat |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842604/ https://www.ncbi.nlm.nih.gov/pubmed/36646731 http://dx.doi.org/10.1038/s41598-022-26291-y |
Ejemplares similares
-
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2017) -
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
por: Suthiworachai, Chanisara, et al.
Publicado: (2018) -
A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
por: Porntaveetus, Thantrira, et al.
Publicado: (2015) -
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
por: Sodsai, Pimpayao, et al.
Publicado: (2022) -
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
por: Summa, Sarinya, et al.
Publicado: (2023)