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Enzymatic mutation detection (EMD™) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII

✍ Scribed by Rima Youil; Timothy J. Toner; Evelyn Bull; Anne L. Bailey; Christopher D. Earl; Harry C. Dietz; Robert A. Montgomery


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
119 KB
Volume
16
Category
Article
ISSN
1059-7794

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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