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BBA - Molecular Cell Research, ISSN 0167-4889, 09/2012, Volume 1823, Issue 9, pp. 1416 - 1425
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 343 - 350
Journal Article
GENES, ISSN 2073-4425, 07/2019, Volume 10, Issue 7, p. 517
Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS) is a rare genetic heterogeneous disease clinically characterized by congenital muscle hypotonia, kyphoscoliosis,... 
COLLAGEN | FKBP14 | ABNORMALITIES | MUSCLE | PLOD1 | EDS type VI | PERIOSTIN | KYPHOSCOLIOSIS | WEBGESTALT | GENE | connective tissue | kyphoscoliotic Ehlers-Danlos Syndrome | GENETICS & HEREDITY | transcriptomics | MUTATIONS | EXPRESSION | extracellular matrix | kyphoscoliotic Ehlers–Danlos Syndrome
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2015, Volume 10, Issue 1, p. 104
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 07/2015, Volume 290, Issue 29, pp. 17679 - 17689
Osteogenesis imperfecta (OI) is a heritable connective tissue disease characterized by bone fragility and increased risk of fractures. Up to now, mutations in... 
BONE-COLLAGEN | ALPHA-CHAINS | PROTEIN | HSP47 | BIOCHEMISTRY & MOLECULAR BIOLOGY | ENDOPLASMIC-RETICULUM | I COLLAGEN | CHAPERONE | CROSS-LINKS | PROCOLLAGEN | EHLERS-DANLOS-SYNDROME | Molecular Bases of Disease | heat shock protein 47 | connective tissue | collagen | SERPINH1 | endoplasmic reticulum stress (ER stress) | bone | osteogenesis | extracellular matrix | cross-links
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 07/2015, Volume 290, Issue 29, pp. 17679 - 17689
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1005 - 1014
Journal Article
Nature communications, 07/2016, Volume 7, p. 11920
Journal Article
Journal Article