Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities-Reference-Cited by-同舟云学术

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Published:2017-04-25 Issue:15 Volume:26 Page:2838-2849
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Quintana Anita M.¹,Yu Hung-Chun²,Brebner Alison³,Pupavac Mihaela³,Geiger Elizabeth A.²,Watson Abigail²,Castro Victoria L.¹,Cheung Warren³,Chen Shu-Huang³,Watkins David³,Pastinen Tomi³,Skovby Flemming⁴,Appel Bruce⁵,Rosenblatt David S.³,Shaikh Tamim H.²

Affiliation:

1. Department of Biological Sciences, University of Texas at El Paso, El Paso, TX 79968, USA

2. Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA

3. Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada

4. Department of Clinical Genetics, Rigshospitalet, and Institute of Clinical Medicine, University of Copenhagen, Copenhagen, 2100 Denmark

5. Section of Developmental Biology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA

Funder

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/15/2838/24340020/ddx157.pdf

Reference35 articles.

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3. Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder;Gérard;Eur. J. Med. Genet,2015

4. E2F1 mediates DNA damage and apoptosis through HCF-1 and the MLL family of histone methyltransferases;Tyagi;embo J,2009

5. Host cell factor-1 and E2F4 interact via multiple determinants in each protein;Knez;Mol. Cell. Biochem,2006

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