Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

Fumarate Hydratase (FH) mutations underpin the autosomal recessive syndrome Fumarate Hydratase deficiency and the autosomal dominant syndrome Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC). The FH c.1431_1433dupAAA (p.Lys477dup) genomic alteration has been conclusively shown to contribut...

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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Zhang, Liying, Walsh, Michael F., Jairam, Sowmya, Mandelker, Diana, Zhong, Yi, Kemel, Yelena, Chen, Ying-Bei, Musheyev, David, Zehir, Ahmet, Jayakumaran, Gowtham, Brzostowski, Edyta, Birsoy, Ozge, Yang, Ciyu, Li, Yirong, Somar, Joshua, DeLair, Deborah, Pradhan, Nisha, Berger, Michael F., Cadoo, Karen, Carlo, Maria I., Robson, Mark E., Stadler, Zsofia K., Iacobuzio-Donahue, Christine A., Joseph, Vijai, Offit, Kenneth
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6930334/
https://ncbi.nlm.nih.gov/pubmed/31444830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23900
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