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

Annals of the New York Academy of Sciences

Volumn 785, Issue , 1996, Pages 195-201

  Superti Furga, A ^a   Hastbacka J ^b   Rossi, A ^a,c   Van Der Harten, J J ^d   Wilcox, W R ^e,g   Cohn, D H ^e,g   Rimoin, D L ^e,g   Steinmann, B ^a   Lander, E S ^b,f   Gitzelmann, R ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e CEDARS SINAI MEDICAL CENTER   (United States)

^f MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIPORTER; PROTEOGLYCAN;

CELL MEMBRANE TRANSPORT; CHONDRODYSPLASIA; CLINICAL ARTICLE; CONFERENCE PAPER; DELETION MUTANT; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; SULFATION;

EID: 0029741487     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1996.tb56259.x     Document Type: Conference Paper

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