Identification of an FBN1 mutation in bovine Marfan syndrome-like disease
β Scribed by T. Hirano; T. Matsuhashi; N. Kobayashi; T. Watanabe; Y. Sugimoto
- Book ID
- 108635040
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 350 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0268-9146
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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
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
Communicated by Hnig H
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