ExLibris header image
SFX Logo
Title: A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
Source:

Human Genetics [0340-6717] Booms, Patrick yr:1997


Collapse list of basic services Basic
Full text
Full text available via SpringerLINK Contemporary 1997-Present
GO
Document delivery
Request document via Library/Bibliothek GO
Users interested in this article also expressed an interest in the following:
1. Kuroda, H. "Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome." Journal of human genetics 45.2 (2000): 115-8. Link to Full Text for this item Link to SFX for this item
2. Lönnqvist, L. "A novel mutation of the fibrillin gene causing ectopia lentis." Genomics 19.3 (1994): 573-6. Link to Full Text for this item Link to SFX for this item
3. Buratti, E. "DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites." Nucleic acids research 39.Database issue (2010): -91. Link to Full Text for this item Link to SFX for this item
4. Kapustin, Y. "Cryptic splice sites and split genes." Nucleic acids research 39.14 (2011): 5837-5844. Link to Full Text for this item Link to SFX for this item
Select All Clear All

Expand list of advanced services Advanced
A service provided by the Library of the Wissenschaftspark Albert Einstein, Potsdam, Germany.
© 2005 SFX by Ex Libris Inc.