Journal article
Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
- Abstract:
-
We have studied a patient with Marfan syndrome whose mutation was not detected by heteroduplex analysis. Primary cultured patient fibroblasts were metabolically labelled and found to secrete fibrillin-1 defectively when compared with an age-matched control. Sequencing of patient cDNA, isolated by reverse transcription-polymerase chain reaction of patient fibroblast RNA, detected a 33-bp insertion. The reading frame of the mutant allele was maintained and predicted the insertion of 11 amino ac...
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- Publication status:
- Published
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- Publisher copy:
- 10.1007/s004390100573
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Authors
Bibliographic Details
- Journal:
- Human genetics
- Volume:
- 109
- Issue:
- 4
- Pages:
- 416-420
- Publication date:
- 2001-10-01
- DOI:
- EISSN:
-
1432-1203
- ISSN:
-
0340-6717
- Source identifiers:
-
99903
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:99903
- UUID:
-
uuid:995297a6-0783-4aec-bc5f-208e0632cc1a
- Local pid:
- pubs:99903
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2001
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