HIGHLIGHTS
- who: Chiara Paganini et al. from the Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy have published the research: Skeletal Dysplasias Caused by Sulfation Defects, in the Journal: (JOURNAL)
- what: The identification of this sulfate/chloride antiporter was the end result of a long-term project aimed at elucidating the molecular basis of diastrophic dysplasia (DTD), a skeletal dysplasia particularly 4 of 17 frequent in the Finnish population .
- how: This review presents a panoramic view of skeletal dysplasias caused by mutations in genes encoding for transporters or enzymes involved . . .
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