Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

Braunholz, Diana

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. [electronic resource] - European journal of human genetics : EJHG Mar 2012 - 271-6 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2011.175 doi


Cell Cycle Proteins
DNA-Binding Proteins
De Lange Syndrome--genetics
Facies
Humans
Intercellular Signaling Peptides and Proteins--chemistry
Mutation, Missense
Phenotype
Protein Binding--genetics
Protein Interaction Domains and Motifs
Proteins--genetics