A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans
| Autor: | A. Rossi, William R. Wilcox, Daniel H. Cohn, David L. Rimoin, Andrea Superti-Furga, R. Gitzelmann, J. J. Van Der Harten, E. S. Lander, Beat Steinmann, J. Hästbacka |
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| Rok vydání: | 1996 |
| Předmět: |
Genetics
Sulfates General Neuroscience Anion Transport Proteins Membrane Transport Proteins Biology Osteochondrodysplasias General Biochemistry Genetics and Molecular Biology Sulfation Phenotype History and Philosophy of Science Sulfate Transporters Mutation medicine Sulfate transporter Humans Point Mutation Diastrophic dysplasia Proteoglycans medicine.symptom Carrier Proteins Gene Protein Processing Post-Translational Sequence Deletion |
| Zdroj: | Annals of the New York Academy of Sciences. 785 |
| ISSN: | 0077-8923 |
| Databáze: | OpenAIRE |
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