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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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| 發表在: | Stem Cell Res |
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| Main Authors: | , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2018
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| 主題: | |
| 在線閱讀: | 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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