Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

Glycosaminoglycans (GAGs) such as chondroitin are ubiquitous disaccharide carbohydrate chains that contribute to the formation and function of proteoglycans at the cell membrane and in the extracellular matrix. Although GAG-modifying enzymes are required for diverse cellular functions, the role of t...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Chopra, Sameer S, Leshchiner, Ignaty, Duzkale, Hatice, McLaughlin, Heather, Giovanni, Monica, Zhang, Chengsheng, Stitziel, Nathan, Fingeroth, Joyce, Joyce, Robin M, Lebo, Matthew, Rehm, Heidi, Vuzman, Dana, Maas, Richard, Sunyaev, Shamil R, Murray, Michael, Cassa, Christopher A
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4585449/
https://ncbi.nlm.nih.gov/pubmed/26436107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.152
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados