Cargando…
Common disease-associated gene variants in a Saudi Arabian population
BACKGROUND: Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguineous population. The optimal solution for estimating the carr...
Autores principales: | Aleissa, Mariam, Aloraini, Taghrid, Alsubaie, Lamia Fahad, Hassoun, Madawi, Abdulrahman, Ghada, Swaid, Abdulrahman, Eyaid, Wafa Al, Mutairi, Fuad Al, Ababneh, Faroug, Alfadhel, Majid, Alfares, Ahmed |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
King Faisal Specialist Hospital and Research Centre
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812157/ https://www.ncbi.nlm.nih.gov/pubmed/35112591 http://dx.doi.org/10.5144/0256-4947.2022.29 |
Ejemplares similares
-
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning
por: Althagafi, Azza, et al.
Publicado: (2021) -
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
por: Alfares, Ahmed, et al.
Publicado: (2020) -
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
por: Alfarsi, Anar, et al.
Publicado: (2021) -
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
por: Nashabat, Marwan, et al.
Publicado: (2019) -
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
por: Alfadhel, Majid, et al.
Publicado: (2021)