Etiological point mutations in the hereditary multiple exostoses gene EXT1: A functional analysis of heparan sulfate polymerase activity

American Journal of Human Genetics

Volumn 69, Issue 1, 2001, Pages 55-66

  Cheung, Peter K ^c   McCormick, Craig ^c   Crawford, Brett E ^d   Esko, Jeffrey D ^d   Tufaro, Frank ^c   Duncan, Gillian ^c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c University of California�San Diego ^*

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE ALPHA; HEPARAN SULFATE; MEMBRANE PROTEIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DISEASE; CARTILAGE TUMOR; CELL SURFACE; CHO CELL; ENZYME ACTIVITY; ENZYME POLYMORPHISM; GENETIC POLYMORPHISM; GOLGI COMPLEX; HEREDITARY MULTIPLE EXOSTOSIS; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0034968957     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321278     Document Type: Article

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