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Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients

Hemangioblastomas (HBs) are uncommon tumors characterized by the presence of inactivating alterations in the von Hippel-Lindau (VHL) gene in inherited cases and by infrequent somatic mutation in sporadic entities. We performed whole exome sequencing on 11 HB patients to further elucidate the genetic...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Am J Med Genet A
Päätekijät: Ma, Dexuan, Yang, Jingyun, Wang, Ying, Huang, Xiang, Du, Guhong, Zhou, Liangfu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2017
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5603408/
https://ncbi.nlm.nih.gov/pubmed/28742274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38350
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