THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. [electronic resource]
- American journal of human genetics Aug 2015
- 302-10 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2015.05.021 doi
Active Transport, Cell Nucleus--genetics Amino Acid Sequence Base Sequence Chromosomes, Human, X--genetics Humans X-Linked Intellectual Disability--genetics Models, Molecular Molecular Sequence Data Mutation, Missense--genetics Pedigree RNA, Messenger--genetics RNA-Binding Proteins--chemistry Sequence Analysis, DNA Syndrome