Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

समान संसाधन

• Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
  द्वारा: Hutchinson, S, और अन्य
  प्रकाशित: (2003)
• Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
  द्वारा: Halliday, D, और अन्य
  प्रकाशित: (2002)
• Molecular analysis of eight mutations in FBN1.
  द्वारा: Halliday, D, और अन्य
  प्रकाशित: (1999)
• Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
  द्वारा: Hutchinson, S, और अन्य
  प्रकाशित: (2001)
• Familial spontaneous pneumothorax is not linked to FBN-1, the defective gene in the Marfan syndrome.
  द्वारा: Maskell, N, और अन्य
  प्रकाशित: (2000)