Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies-Reference-Cited by-同舟云学术

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Published:2019-01-08 Issue:4 Volume:27 Page:582-593
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Krall Max, ,Htun Stephanie,Schnur Rhonda E.,Brooks Alice S.,Baker Laura,de Alba Campomanes Alejandra,Lamont Ryan E.,Gripp Karen W.,Schneidman-Duhovny Dina,Innes A. Micheil^ORCID,Mancini Grazia M. S.,Slavotinek Anne M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0298-9.pdf

Reference27 articles.

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3. Chen J, Waltenspiel B, Warren WD, et al. Functional analysis of the integrator subunit 12 identifies a microdomain that mediates activation of the Drosophila integrator complex. J Biol Chem. 2013;288:4867–77.

4. Chen J, Wagner EJ. snRNA 3’ end formation: the dawn of the Integrator complex. Biochem Soc Trans. 2010;38:1082–7.

5. Hata T, Nakayama M. Targeted disruption of the murine large nuclear KIAA1440/Ints1 protein causes growth arrest in early blastocyst stage embryos and eventual apoptotic cell death. Biochim Biophys Acta. 2007;1773:1039–51.

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