Molecular analysis of eight mutations in FBN1.
Mutations in the gene encoding extracellular glycoprotein fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study, eight mutations have been detected in MFS patients by heteroduplex analysis. These comprise two missense mutations, C1835Y and C2258Y...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1999
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