A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.

Human mutation

Volumn 12, Issue 2, 1998, Pages 137-

  Grau, U ^a   Klein, H G ^a   Detter, C ^a   Mair, H ^a   Welz, A ^a   Seidel, D ^a   Reichart, B ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN; SCLEROPROTEIN;

ARTICLE; FEMALE; GENETICS; HUMAN; MALE; MARFAN SYNDROME; MUTATION; NEWBORN; PHENOTYPE; PRESCHOOL CHILD;

CHILD, PRESCHOOL; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE;

MLCS; MLOWN;

EID: 17344388007     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)12:2<137::aid-humu14>3.3.co;2-g     Document Type: Article

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