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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

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Biochemistry
Role:
Author
Journal:
Human genetics
Volume:
109
Issue:
4
Pages:
416-420
Publication date:
2001-10-05
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
URN:
uuid:995297a6-0783-4aec-bc5f-208e0632cc1a
Source identifiers:
99903
Local pid:
pubs:99903

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