An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

Document Details

Document Type
Pub Defense Publication
Publication Date
Aug 07, 2018
Source ID
10.1038/s41431-018-0221-4

Entities

People

  • Aaron M Wenger
  • Gill Bejerano
  • Harendra Guturu
  • Heidi I. Chen
  • Johannes Birgmeier
  • Jonathan A Bernstein
  • Karthik A. Jagadeesh
  • Susan Schelley

Organizations

  • David and Lucile Packard Foundation
  • Microsoft
  • National Science Foundation
  • Stanford University School of Medicine