Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan

The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherited variants, particularly in populations in which c...

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Detalles Bibliográficos
Autores principales: Rabia, Ansa, Harripaul, Ricardo, Mikhailov, Anna, Mahmood, Saqib, Maqbool, Shazia, Vincent, John B., Ayub, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498319/
https://www.ncbi.nlm.nih.gov/pubmed/36140801
http://dx.doi.org/10.3390/genes13091633