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The New England Journal of Medicine, ISSN 0028-4793, 05/2013, Volume 368, Issue 19, pp. 1809 - 1816
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 979 - 985
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2011, Volume 26, Issue 3, pp. 666 - 672
Journal Article
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 343 - 350
Journal Article
Nature Communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, pp. 11920 - 11920
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes... 
TRANSCRIPTION FACTORS | COLLAGEN | OASIS | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | SITE-1 PROTEASE | IFAP SYNDROME | EXTRACELLULAR-MATRIX | ENDOPLASMIC-RETICULUM STRESS | CLEAVAGE | MISSENSE MUTATIONS | Index Medicus
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2016, Volume 31, Issue 5, pp. 1030 - 1040
Journal Article