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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585449/
https://www.ncbi.nlm.nih.gov/pubmed/26436107
http://dx.doi.org/10.1002/mgg3.152

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