載入...

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Overgrowth syndromes comprise a group of heterogeneous disorders characterised by excessive growth parameters, often in association with intellectual disability. To identify new causes of human overgrowth, we have been undertaking trio-based exome sequencing studies in overgrowth patients and their...

全面介紹

Na minha lista:
書目詳細資料
發表在:Hum Mol Genet
Main Authors: Loveday, Chey, Tatton-Brown, Katrina, Clarke, Matthew, Westwood, Isaac, Renwick, Anthony, Ramsay, Emma, Nemeth, Andrea, Campbell, Jennifer, Joss, Shelagh, Gardner, McKinlay, Zachariou, Anna, Elliott, Anna, Ruark, Elise, van Montfort, Rob, Rahman, Nazneen
格式: Artigo
語言:Inglês
出版: Oxford University Press 2015
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4527483/
https://ncbi.nlm.nih.gov/pubmed/25972378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv182
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!