R Gitzelmann
- Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
1996/01/01 by Andrea Superti-Furga, Andrea Superti‐Furga, Johanna Hästbacka +10 · 240 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Anatomy #Biology #Bone health and treatments #Cartilage #Chondrodysplasia punctata #Connective tissue disorders research #Dysplasia #Endocrinology #Gene #Genetics #Molecular biology #Mutation #Phenotype #Proteoglycans and glycosaminoglycans research #Sulfation #Transporter