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Journal article

Molecular analysis of eight mutations in FBN1.

Abstract:

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 in calcium-binding epidermal growth factor-like domains, two nonsense mutations, R1541X and R2394X in transforming growth factor beta1-binding protein-like domains, one splice site mutation, which...

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Publication status:
Published

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Publisher copy:
10.1007/s004390051150

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Journal:
Human genetics
Volume:
105
Issue:
6
Pages:
587-597
Publication date:
1999-12-05
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
URN:
uuid:75973183-1c56-47f3-8fd4-3cf5a97adaf3
Source identifiers:
100775
Local pid:
pubs:100775

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