Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint la...

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Detalles Bibliográficos
Autores principales: Ritelli, Marco, Chiarelli, Nicola, Zoppi, Nicoletta, Dordoni, Chiara, Quinzani, Stefano, Traversa, Michele, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471164/
https://www.ncbi.nlm.nih.gov/pubmed/28649518
http://dx.doi.org/10.1016/j.ymgmr.2014.11.005

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