SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

Advances in genetic technologies have made genetic testing more accessible than ever before. However, depending on national, regional, legal, and health insurance circumstances, testing procedures may still need to be streamlined in real-world clinical practice. In cases of autosomal recessive disea...

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Detalles Bibliográficos
Autores principales: Nomura, Fumie, Shimizu, Akira, Togi, Sumihito, Ura, Hiroki, Niida, Yo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671442/
https://www.ncbi.nlm.nih.gov/pubmed/38003022
http://dx.doi.org/10.3390/genes14112079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671442/
https://www.ncbi.nlm.nih.gov/pubmed/38003022
http://dx.doi.org/10.3390/genes14112079

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