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Recurrent Deletion of Fibrillin Exon 32 in Two Patients with Neonatal Marfan syndrome

โœ Scribed by Wang, Mei; Price, Christopher E.; Han, Jenny; Godfrey, Maurice


Book ID
122588809
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
92 KB
Volume
14
Category
Article
ISSN
0945-053X

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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