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Items: 2

Select item 52412051.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Jose A. Caparros‐Martin, Mona S. Aglan, Samia Temtamy, Ghada A. Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava‐Ferreras, Pilar Gutierrez, Ana M. Bueno, Belen Sagastizabal, Encarna Guillen‐Navarro, Maria Ballesta‐Martinez, Vanesa Gonzalez, Sarenur Y. Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza‐Valdez, Francisco Cammarata‐Scalisi, Victor Martinez‐Glez, Karen E. Heath, Pablo Lapunzina, Victor L. Ruiz‐Perez

Mol Genet Genomic Med. 2017 Jan; 5(1): 28–39. Published online 2016 Dec 20. doi: 10.1002/mgg3.257

PMCID:: PMC5241205

Abstract Article PDF–126K

Select item 49561142.

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

Wayne A. Cabral, Masaki Ishikawa, Matthias Garten, Elena N. Makareeva, Brandi M. Sargent, MaryAnn Weis, Aileen M. Barnes, Emma A. Webb, Nicholas J. Shaw, Leena Ala-Kokko, Felicitas L. Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S. Blank, Joshua Zimmerberg, David R. Eyre, Yoshihiko Yamada, Joan C. Marini

PLoS Genet. 2016 Jul; 12(7): e1006156. Published online 2016 Jul 21. doi: 10.1371/journal.pgen.1006156