SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

PURPOSE: To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and (3) in silico structural prediction analysis of missense substitutions in SDHA. PATIENTS AND METHODS: A systematic literature review and a ret...

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Detalles Bibliográficos
Autores principales: Casey, Ruth T., Ascher, David B., Rattenberry, Eleanor, Izatt, Louise, Andrews, Katrina A., Simpson, Helen L., Challis, Benjamen, Park, Soo‐Mi, Bulusu, Venkata R., Lalloo, Fiona, Pires, Douglas E. V., West, Hannah, Clark, Graeme R., Smith, Philip S., Whitworth, James, Papathomas, Thomas G., Taniere, Phillipe, Savisaar, Rosina, Hurst, Laurence D., Woodward, Emma R., Maher, Eamonn R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441402/
https://www.ncbi.nlm.nih.gov/pubmed/28546994
http://dx.doi.org/10.1002/mgg3.279

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441402/
https://www.ncbi.nlm.nih.gov/pubmed/28546994
http://dx.doi.org/10.1002/mgg3.279

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