TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies

Human Mutation

Volumn 20, Issue 3, 2002, Pages 197-208

  Katzke, Stefanie ^a   Booms, Patrick ^a   Tiecke, Frank ^a   Palz, Monika ^a   Pletschacher, Angelika ^a   Türkmen, Seval ^a   Neumann, Luitgard M ^a   Pregla, Reinhard ^b   Leitner, Christa ^e   Schramm, Cornelia ^f   Lorenz, Peter ^g   Hagemeier, Christian ^a   Fuchs, Josefine ^c   Skovby, Flemming ^d   Rosenberg, Thomas ^c   Robinson, Peter N ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b DEUTSCHES HERZZENTRUM BERLIN   (Germany)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d Rigshospitalet   (Denmark)

^e GOETHE UNIVERSITY   (Germany)

^f UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^g Humboldt University Berlin ^*

Author keywords

FBN1; Fibrillin 1; Fibrillinopathy; Marfan syndrome; MFS; Mutation detection; Mutation screening; Temperature gradient gel electrophoresis; TGGE

Indexed keywords

DNA; EPIDERMAL GROWTH FACTOR; FIBRILLIN; ACTIN BINDING PROTEIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM BINDING; CHILD; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DNA SEQUENCE; ECTOPIA LENTIS; EXON; FEMALE; FIBRILLINOPATHY; GEL ELECTROPHORESIS; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETON MALFORMATION; CHEMISTRY; GENETICS; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0036024849     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10112     Document Type: Article

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