Variant: rs137854464 

    present in Gene: FBN1
    present in Chromosome: 15
    Position on Chromosome: 48425483
    Alleles of this Variant: C/T

rs137854464 in FBN1 gene and ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 8188302 1994 A novel mutation of the fibrillin gene causing ectopia lentis.

PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

PMID 12203992 2002 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

PMID 11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

rs137854464 in FBN1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

PMID 10229672 1999 Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.

PMID 20564469 2010 Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

rs137854464 in FBN1 gene and Marfan Syndrome PMID 19533785 2009 Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

PMID 19941982 2010 Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 22772377 2013 Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

PMID 9254848 1997 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.

PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

PMID 20564469 2010 Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

PMID 11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

PMID 8071963 1994 A new missense mutation of fibrillin in a patient with Marfan syndrome.

PMID 15161917 2004 Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

PMID 7870075 1994 A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.

PMID 10441597 1999 Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

PMID 10425041 1999 Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

PMID 7738200 1995 A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 12203992 2002 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

PMID 16220557 2005 Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

PMID 10229672 1999 Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.

PMID 16222657 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

PMID 8406497 1993 Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

PMID 8281141 1993 Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

PMID 7951214 1994 Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

PMID 8004112 1994 Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.