1 | SLC26A2, ACG1B, ATSG2, DTD, EDM4, CD36 |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. | |
Karniski LP. | |
Hum Mol Genet 13(19):2165-71. Epub 2004 Aug 04. 2004 | |
2 | ACG1B, DTD |
A chondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. | |
Superti-Furga A, et al. | |
Nat Genet 12 : 100-102. 1996 | |
3 | ACG1B, SLC26A2 |
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene : genotype/phenotype correlations. | |
Superti-Furga A, et al. | |
Am J Med Genet 63 : 144-147. 1996 | |
4 | ACG1B |
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. | |
Superti-Furga A. | |
Am J Hum Genet 55 : 1137-1145. 1994 | |