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1982, ISBN 0824713680, Volume 7., vii, 224
Book
Human Mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 29 - 41
In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3)... 
MAP kinase | chondrocyte | FGF | FGFR3 | skeletal dysplasia | Skeletal dysplasia | Chondrocyte | TYROSINE KINASE DOMAIN | BONE-GROWTH | PHOSPHATIDYLINOSITOL 3-KINASE | ERK MAP KINASE | MULTIPLE-MYELOMA CELLS | THANATOPHORIC DYSPLASIA | HORMONE-RELATED PROTEIN | GENETICS & HEREDITY | CHONDROCYTE PROLIFERATION | C-NATRIURETIC PEPTIDE | ACTIVATING MUTATIONS | Osteochondrodysplasias - pathology | Cell Proliferation | Skin - metabolism | Humans | Fibroblast Growth Factors - genetics | Phosphatidylinositol 3-Kinases - metabolism | Receptor, Fibroblast Growth Factor, Type 3 - metabolism | Genes, Lethal | Fibroblast Growth Factors - metabolism | STAT1 Transcription Factor - metabolism | MAP Kinase Signaling System - genetics | Osteochondrodysplasias - genetics | Bone and Bones - metabolism | Chondrocytes - metabolism | Skin - pathology | Skin Neoplasms - pathology | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Signal Transduction | Gene Expression Regulation | Cell Communication | Cartilage - metabolism | STAT1 Transcription Factor - genetics | Skin Neoplasms - metabolism | Phosphatidylinositol 3-Kinases - genetics | Cartilage - abnormalities | Natriuretic Peptide, C-Type - metabolism | Skin Neoplasms - genetics | Natriuretic Peptide, C-Type - genetics | Mutation | Bone and Bones - abnormalities | Osteochondrodysplasias - metabolism
Journal Article
1971, Preparation and properties of solid state materials., Volume 1., viii, 284
Book
New England Journal of Medicine, ISSN 0028-4793, 08/2016, Volume 375, Issue 6, pp. 545 - 555
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2018, Volume 123, Issue 4, pp. 416 - 427
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene leading to deficient α-galactosidase A activity, glycosphingolipid... 
Fabry disease | Treatment | Diagnosis | Mutation | Management |