A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses.

Human mutation

Volumn 17, Issue 2, 2001, Pages 158-

  Shi, Y R ^a   Wu, J Y ^a   Tsai, F J ^a   Lee, C C ^a   Tsai, C H ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; EXOSTOSIN 1; EXOSTOSIN-1; N ACETYLGLUCOSAMINYLTRANSFERASE;

ARTICLE; CHEMISTRY; FAMILY HEALTH; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; EXOSTOSES, MULTIPLE HEREDITARY; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION;

EID: 18044400308     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200102)17:2<158::AID-HUMU24>3.0.CO;2-5     Document Type: Article

References (0)