Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is still far too expensive. Recently, novel genome partitioning methods have been developed that...

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Detalles Bibliográficos
Autores principales: Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei
Formato: Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882650/
https://www.ncbi.nlm.nih.gov/pubmed/21836662
http://dx.doi.org/10.1007/s11568-010-9137-y

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