Kumar, Raman

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