Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Autosomal recessive diseases (ARD) are typically caused by a limited number of mutations whose identification is challenged by their low prevalence. Our purpose was to develop a novel approach allowing an efficient search for mutations causing ARD and evaluation of their pathogenicity without a cont...

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Detalles Bibliográficos
Autores principales: Lechowicz, Urszula, Gambin, Tomasz, Pollak, Agnieszka, Podgorska, Anna, Stawinski, Piotr, Franke, Andre, Petersen, Britt-Sabina, Firczuk, Malgorzata, Oldak, Monika, Skarzynski, Henryk, Ploski, Rafal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451398/
https://www.ncbi.nlm.nih.gov/pubmed/28566687
http://dx.doi.org/10.1038/s41598-017-02315-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451398/
https://www.ncbi.nlm.nih.gov/pubmed/28566687
http://dx.doi.org/10.1038/s41598-017-02315-w

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