Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Nature Genetics

Volumn 12, Issue 1, 1996, Pages 100-102

  Superti Furga, A ^a   Hastbacka, J ^a   Wilcox, W R ^a   Cohn, D H ^a   Van der Harten, H J ^a   Rossi, A ^a   Blau, N ^a   Rimoin, D L ^a   Steinmann, B ^a   Lander, E S ^a   Gitzelmann, R ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE 3' PHOSPHATE 5' PHOSPHOSULFATE; ADENOSINE 5' PHOSPHOSULFATE; CARRIER PROTEIN; DNA; PROTEOGLYCAN; SULFATE;

ACHONDROPLASIA; ARTICLE; CARTILAGE; CHONDRODYSPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FETUS; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; NEWBORN; PRIORITY JOURNAL; PROTEOGLYCAN SYNTHESIS; SULFATION;

ACHONDROPLASIA; ANION TRANSPORT PROTEINS; CARRIER PROTEINS; CARTILAGE; FEMALE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; POINT MUTATION; PROTEOGLYCANS; SEQUENCE DELETION; SULFATES;

EID: 13344278021     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0196-100     Document Type: Article

References (0)