Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study

Elaborate analyses of the status of gene mutations in neurofibromatosis type 1 (NF1) are still difficult nowadays due to the large gene sizes, broad mutation spectrum, and the various effects of mutations on mRNA splicing. These problems cannot be solved simply by sequencing the entire coding region...

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Detalles Bibliográficos
Autores principales: Togi, Sumihito, Ura, Hiroki, Niida, Yo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929138/
https://www.ncbi.nlm.nih.gov/pubmed/34449562
http://dx.doi.org/10.3390/cimb43020057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929138/
https://www.ncbi.nlm.nih.gov/pubmed/34449562
http://dx.doi.org/10.3390/cimb43020057

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