The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.

@article{Hstbacka1994TheDD,
  title={The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.},
  author={Johanna H{\"a}stbacka and Albert de la Chapelle and Melanie M. Mahtani and Gregory A. Clines and Mary Pat Reeve-Daly and Martin Daly and Bruce A Hamilton and Kenro Kusumi and Bakula L. Trivedi and Alix Weaver},
  journal={Cell},
  year={1994},
  volume={78 6},
  pages={1073-87}
}
Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. The disease occurs in most populations, but is particularly prevalent in Finland owing to an apparent founder effect. DTD maps to distal chromosome 5q and, based on linkage disequilibrium studies in the Finnish population, we had previously predicted that the DTD gene should lie about 64 kb away from the… CONTINUE READING
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