FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

The importance of mutation detection in

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

✍ Paolo Comeglio; Philip Johnson; Gavin Arno; Glen Brice; Alison Evans; José Arago 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 188 KB 👁 1 views

Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we analysed the FBN1 gene using PCR, SSCP and/or dHPLC analysis, and automatic sequencing of abnormal bands/peaks, in a consecutive series of 508 patien

Detection of thirty novel FBN1 mutations

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy

✍ Andrew Biggin; Katherine Holman; Maggie Brett; Bruce Bennetts; Lesley Adès 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views

Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow to emerge. We scr

Identification of 9 novel FBN1 mutations

Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome

✍ Alice Abd El-Aleem; Matthias Karck; Axel Haverich; Jörg Schmidtke; Mine Arslan-K 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by

Detection of six novel FBN1 mutations in

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

✍ Paolo Comeglio; Alison L. Evans; Glen W. Brice; Anne H. Child 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 1 views

Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been r

Erratum: Detection of six novel FBN1 mut

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

✍ Paolo Comeglio; Alison L. Evans; Glen W. Brice; Anne H. Child 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB 👁 1 views

Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been r

Eight novel mutations of the FBN1 gene f

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

✍ Ritsu Matsukawa; Kazuki Iida; Masako Nakayama; Tsunehiro Mukai; Yutaka Okita; Mo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views