A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

Ann N Y Acad Sci

Authors	A Superti-Furga J Hästbacka Rossi J van der Harten W Wilcox D Cohn D Rimoin B Steinmann E Lander R Gitzelmann
Keywords	Humans Mutation Phenotype Carrier Proteins Protein Processing, Post-Translational Sequence Deletion Point Mutation Anion Transport Proteins Membrane Transport Proteins Osteochondrodysplasias Proteoglycans Sulfates
Year of Publication	1996
Journal	Ann N Y Acad Sci
Volume	785
Pages	195-201
Date Published	1996 Jun 8
ISSN	0077-8923
PubMed ID	8702127
Links
Grant list	HD 22657 / HD / NICHD NIH HHS / United States HG00098 / HG / NHGRI NIH HHS / United States