Elongin c (eloc/tceb1)-associated von hippel-lindau disease

HIGHLIGHTS

• who: Advance access publication date et al. from the of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge , QQ, UK have published the research: Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease, in the Journal: (JOURNAL)
• what: The authors report a germline de novo missense substitution NM_005648.4(ELOC):c.236A>G (p.Tyr79Cys) in ELOC, previously known as TCEB1, in a female who satisfied clinical diagnostic criteria for VHL disease but who did not have a detectable VHL mutation. The analysis has not only confirmed the finding of recurrent somatic p.Tyr79Cys . . .
  

   

  

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