Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias

American Journal of Human Genetics

Volumn 58, Issue 2, 1996, Pages 255-262

  Hästbacka, Johanna ^a,f   Superti Furga, Andrea ^c   Wilcox, William R ^d,e   Rimoin, David L ^d,e   Cohn, Daniel H ^d,e   Lander, Eric S ^a,b  

^a WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d Sinai Research Institute   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; DNA; RNA; SULFATE;

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CONTROLLED STUDY; FETUS; GENE; GENE MUTATION; HUMAN; HUMAN CELL; NEWBORN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOGRAPHY; SINGLE STRAND CONFORMATION POLYMORPHISM; SULFATION;

ANION TRANSPORT PROTEINS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; BONE AND BONES; CARRIER PROTEINS; CLONING, MOLECULAR; FIBROBLASTS; GENE EXPRESSION; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; OSTEOGENESIS; POINT MUTATION; PROTEOGLYCANS; SEQUENCE ANALYSIS; SEQUENCE DELETION; SULFATES;

EID: 0030048174     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

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