A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene
โ Scribed by Guglielmina Pepe; Betti Giusti; Monica Attanasio; Paolo Comeglio; Maria Cristina Porciani; Letizia Giurlani; Gian Franco Montesi; Gian Carlo Calamai; Marino Vaccari; Silvia Favilli; Rosanna Abbate; Gian Franco Gensini
- Book ID
- 115632441
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 454 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0022-2828
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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
Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr