๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

โœ 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

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Detection of six novel FBN1 mutations in
โœ Paolo Comeglio; Alison L. Evans; Glen W. Brice; Anne H. Child ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 146 KB ๐Ÿ‘ 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

Mutation screening of all 65 exons of th
โœ Caroline Hayward; Mary E. Porteous; David J. H. Brock ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 261 KB ๐Ÿ‘ 2 views

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