Ilkka Kaitila
- The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
1994/09/01 by Johanna Hästbacka, Albert de la Chapelle, Melanie M. Mahtani +13 · 573 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Biology #Chromosome #Connective tissue disorders research #Gene #Gene mapping #Genetic linkage #Genetics #Haplotype #Linkage disequilibrium #Locus (genetics) #Neonatal Respiratory Health Research #Population #Positional cloning #RNA modifications and cancer
- Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate production
1998/10/01 by Antonio Rossi, Ilkka Kaitila, William R. Wilcox +5 · 53 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · #Anatomy #Biochemistry #Biology #Cartilage #Chemistry #Chondroitin sulfate #Connective tissue disorders research #Disaccharide #Extracellular matrix #Genetics #Glucosamine #Glycosaminoglycan #Glycosylation and Glycoproteins Research #In vivo #Keratan sulfate #Proteoglycan #Proteoglycans and glycosaminoglycans research #Sulfation
- Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
1999/09/01 by Johanna Hästbacka, Anne Kerrebrock, Anne W. Kerrebrock +8 · 44 citations
Biochemistry, Genetics and Molecular Biology · #Alternative splicing #Biology #Exon #Founder effect #Gene #Genetics #Genotype #Haplotype #Ion Transport and Channel Regulation #Mutation #RNA Research and Splicing #RNA modifications and cancer #Splice site mutation #Transition (genetics)