TGGE screening of the entireFBN1coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies-Reference-Cited by-同舟云学术

TGGE screening of the entireFBN1coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

Published:2002-09 Issue:3 Volume:20 Page:197-208
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Katzke Stefanie,Booms Patrick,Tiecke Frank,Palz Monika,Pletschacher Angelika,Türkmen Seval,Neumann Luitgard M.,Pregla Reinhard,Leitner Christa,Schramm Cornelia,Lorenz Peter,Hagemeier Christian,Fuchs Josefine,Skovby Flemming,Rosenberg Thomas,Robinson Peter N.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference52 articles.

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3. A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype;Booms;Hum Genet,1997

4. Novel exon skipping mutation in the fibrillin-1 gene: two “hot spots” for the neonatal Marfan syndrome;Booms;Clin Genet,1999

5. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25;Collod;Nat Genet,1994

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