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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5441402/
https://ncbi.nlm.nih.gov/pubmed/28546994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.279
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