Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

Human mutation

Volumn 18, Issue 3, 2001, Pages 251-

  Comeglio, P ^a   Evans, A L ^a   Brice, G W ^a   Child, A H ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

ADULT; ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; HUMAN; MALE; MARFAN SYNDROME; MIDDLE AGED; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; UNITED KINGDOM;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; GREAT BRITAIN; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; SEQUENCE DELETION;

EID: 0035462332     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1181     Document Type: Article

References (0)