Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome

Background: Alport syndrome is a hereditary disorder caused by pathogenic variants in the COL4A gene, which can be inherited in an autosomal recessive, dominant, or X-linked pattern. In the Bukharian Jewish population, no founder pathogenic variant has been reported in COL4A4. Methods: The cohort in...

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Detalles Bibliográficos
Autores principales: Levy, Michal, Bazak, Lily, Lev-El, Noa, Greenberg, Rotem, Kropach, Nesia, Basel-Salmon, Lina, Maya, Idit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606019/
https://www.ncbi.nlm.nih.gov/pubmed/37895203
http://dx.doi.org/10.3390/genes14101854

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606019/
https://www.ncbi.nlm.nih.gov/pubmed/37895203
http://dx.doi.org/10.3390/genes14101854

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