A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding

Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype of KS includes moderate to severe intellectual disa...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Biol Chem
Autors principals: Blackburn, Patrick R., Tischer, Alexander, Zimmermann, Michael T., Kemppainen, Jennifer L., Sastry, Sujatha, Knight Johnson, Amy E., Cousin, Margot A., Boczek, Nicole J., Oliver, Gavin, Misra, Vinod K., Gavrilova, Ralitza H., Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2017
Matèries:
Molecular Bases of Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339767/
https://ncbi.nlm.nih.gov/pubmed/28057753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.770545
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars