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Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2016, Volume 31, Issue 5, pp. 1030 - 1040
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 979 - 985
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
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2011, Volume 96, Issue 2, pp. 355 - 364
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2007, Volume 39, Issue 3, pp. 359 - 365
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 06/2014, Volume 29, Issue 6, pp. 1392 - 1401
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2015, Volume 23, Issue 8, pp. 1042 - 1050
Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive... 
COL1A1 | PROTEIN | HELICAL DOMAIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | I COLLAGEN | MUTATIONS | OSTEOPOROSIS | Genetics, Population | Genetic Association Studies | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Male | Bone Density - genetics | Sweden | Collagen Type I - genetics | Molecular Epidemiology | DNA Mutational Analysis | Osteogenesis Imperfecta - epidemiology | Adult | Female | Osteogenesis Imperfecta - pathology | Mutation | Child | Pediatrics | Collagen (type I) | Serine | Population studies | Glycine | Epidemiology | Data bases | Consortia | Genotype & phenotype | Dentinogenesis | Population | Genetics | Bones | Dentinogenesis imperfecta | Bone density | Children | Genotypes | Phenotypes | Children & youth | Fractures | Collagen | Osteogenesis imperfecta | Bone mineral density | Binding sites | Osteogenesis | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical Biotechnology | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Medicinsk bioteknologi | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)
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