An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease-Reference-Cited by-同舟云学术

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

Published:2018-08-07 Issue:12 Volume:26 Page:1810-1818
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Funder

Stanford University School of Medicine

DOD | Defense Advanced Research Projects Agency

David and Lucile Packard Foundation

Microsoft

National Science Foundation Graduate Research Fellow

Stanford Graduate Fellowship, Computation Evolution and Human Genomics Fellowship

Stanford Bio-X Fellowship

Stanford Pediatrics Department

Not Applicable

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0221-4.pdf

Reference40 articles.

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3. Petit F, Sears KE, Ahituv N. Limb development: a paradigm of gene regulation. Nat Rev Genet. 2017;18:245–58.

4. Spitz F. Gene regulation at a distance: from remote enhancers to 3D regulatory ensembles. Semin Cell Dev Biol. 2016;57:57–67.

5. Auton A, Abecasis GR, Altshuler DM, Durbin RM, Bentley DR, Chakravarti A, et al. A global reference for human genetic variation. Nature. 2015;526:68–74.

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