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Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene

Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. A human induced pluripotent stem cell (...

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Detalhes bibliográficos
Publicado no:Stem Cell Res
Main Authors: Li, Rong, Baskfield, Amanda, Lin, Yongshun, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Jaffré, Fabrice, Roberts, Amy E., Ottinger, Elizabeth A., Kontaridis, Maria I., Zheng, Wei
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017387/
https://ncbi.nlm.nih.gov/pubmed/30640061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2018.101374
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