Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)

1999/09/01 by Johanna Hästbacka, Anne W. Kerrebrock, Anne Kerrebrock +8 · 1 citation
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)

paper · doi:10.1038/sj.ejhg.5200361

crossref issued 1999/09/01 · crossref published 1999/09/01 · crossref published-online 1999/09/01 · crossref published-print 1999/09/01 · openalex publication_date 1999/09/01 · crossref created 2003/12/03 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · crossref indexed 2026/02/07 · openalex updated_date 2026/07/23

Citations

• Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
• Functional Analysis of Diastrophic Dysplasia Sulfate Transporter
• The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

Cited by

• Sulfate transporter [wikipedia]