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Results: 1-7 |
Results: 7
ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE
Authors: SUPERTIFURGA A HASTBACKA J WILCOX WR COHN DH VANDERHARTEN HJ ROSSI A BLAU N RIMOIN DL STEINMANN B LANDER ES GITZELMANN R
Citation: A. Supertifurga et al., ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE, Nature genetics, 12(1), 1996, pp. 100-102
ATELOSTEOGENESIS TYPE-II IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE-TRANSPORTER GENE (DTDST) - EVIDENCE FOR A PHENOTYPIC SERIES INVOLVING 3 CHONDRODYSPLASIAS
Authors: HASTBACKA J SUPERTIFURGA A WILCOX WR RIMOIN DL COHN DH LANDER ES
Citation: J. Hastbacka et al., ATELOSTEOGENESIS TYPE-II IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE-TRANSPORTER GENE (DTDST) - EVIDENCE FOR A PHENOTYPIC SERIES INVOLVING 3 CHONDRODYSPLASIAS, American journal of human genetics, 58(2), 1996, pp. 255-262
THE MOLECULAR-BASIS OF HEREDITARY SKELETAL DISORDERS
Authors: HASTBACKA J
Citation: J. Hastbacka, THE MOLECULAR-BASIS OF HEREDITARY SKELETAL DISORDERS, Annals of medicine, 27(4), 1995, pp. 433-434
DEFECTIVE SULFATION OF PROTEOGLYCANS IN ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DTDST GENE - THE DISORDER IS ALLELIC TO DIASTROPHIC DYSPLASIA
Authors: SUPERTIFURGA A HASTBACKA J COHN DH WILCOX W VANDERHARTEN HJ RIMOIN DL LANDER S STEINMANN B GITZELMANN R
Citation: A. Supertifurga et al., DEFECTIVE SULFATION OF PROTEOGLYCANS IN ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DTDST GENE - THE DISORDER IS ALLELIC TO DIASTROPHIC DYSPLASIA, American journal of human genetics, 57(4), 1995, pp. 243-243
ATELOSTEOGENESIS TYPE-II IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE (DTDST)
Authors: HASTBACKA J WILCOX WR SUPERTIFURGA A RIMOIN DL COHN DH LANDER ES
Citation: J. Hastbacka et al., ATELOSTEOGENESIS TYPE-II IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE (DTDST), American journal of human genetics, 57(4), 1995, pp. 244-244
THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING
Authors: HASTBACKA J DELACHAPELLE A MAHTANI MM CLINES G REEVEDALY MP DALY M HAMILTON BA KUSUMI K TRIVEDI B WEAVER A COLOMA A LOVETT M BUCKLER A KAITILA I LANDER ES
Citation: J. Hastbacka et al., THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING, Cell, 78(6), 1994, pp. 1073-1087
CARTILAGE-HAIR HYPOPLASIA GENE ASSIGNED TO CHROMOSOME-9 BY LINKAGE ANALYSIS
Authors: SULISALO T SISTONEN P HASTBACKA J WADELIUS C MAKITIE O DELACHAPELLE A KAITILA I
Citation: T. Sulisalo et al., CARTILAGE-HAIR HYPOPLASIA GENE ASSIGNED TO CHROMOSOME-9 BY LINKAGE ANALYSIS, Cytogenetics and cell genetics, 64(2), 1993, pp. 120-120
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