A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)

Genetic work-up of unexplained erythrocytosis that is suspected to be inherited in nature currently requires either laborious exon-by-exon gene panel testing by Sanger sequencing or expensive next-generation sequencing. A high prevalence of Chuvash polycythemia (61%) has been previously reported amo...

Descripción completa

Detalles Bibliográficos
Autores principales: Duggal, Nisha, Singh, Namrata, Sachdev, Suchet, Singh, Avinash Kumar, Hira, Jasbir Kaur, Chhabra, Sanjeev, Bansal, Deepak, Malhotra, Pankaj, Varma, Neelam, Das, Reena, Sharma, Prashant
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer India 2023
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10183085/
https://www.ncbi.nlm.nih.gov/pubmed/37362405
http://dx.doi.org/10.1007/s12288-023-01668-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10183085/
https://www.ncbi.nlm.nih.gov/pubmed/37362405
http://dx.doi.org/10.1007/s12288-023-01668-9

Ejemplares similares