An R223P mutation in EXT2 gene causes hereditary multiple exostoses

Human mutation

Volumn 15, Issue 4, 2000, Pages 390-391

  Shi, Yi Ru ^a   Wu, Jer Yuarn ^a   Tsai, Fuu Jen ^a   Lee, Cheng Chun ^a   Tsai, Chang Hai ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; EXOSTOSIN 2; EXOSTOSIN-2; N ACETYLGLUCOSAMINYLTRANSFERASE; PROLINE; PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CHINA; CHROMOSOME 11; DOMINANT GENE; FEMALE; GENETICS; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; TAIWAN;

AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENES, DOMINANT; HUMANS; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PROLINE; PROTEINS; TAIWAN;

EID: 0034164616     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E     Document Type: Article

References (0)