A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.

Human mutation

Volumn 12, Issue 5, 1998, Pages 362-

  Wolf, M ^a   Hemminki, A ^a   Kivioja, A ^a   Sistonen, P ^a   Kaitila, I ^a   Ervasti, H ^a   Kinnunen, J ^a   Karaharju, E ^a   Knuutila, S ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

EXOSTOSIN 2; EXOSTOSIN-2; N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; CHROMOSOME 11; GENETICS; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; POINT MUTATION;

ALTERNATIVE SPLICING; CHROMOSOMES, HUMAN, PAIR 11; EXOSTOSES, MULTIPLE HEREDITARY; HUMANS; N-ACETYLGLUCOSAMINYLTRANSFERASES; POINT MUTATION; PROTEINS;

EID: 0032222572     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)