Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.

Hutchinson, S; Wordsworth, BP; Handford, PA

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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APA Style

Hutchinson, S., Wordsworth, B. P., & Handford, P. A. (2001). Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Human Genetics, 109(4), 416–420.

MLA Style

Hutchinson, S., et al. “Marfan Syndrome Caused by a Mutation in FBN1 That Gives Rise to Cryptic Splicing and a 33 Nucleotide Insertion in the Coding Sequence.” Human Genetics, vol. 109, no. 4, Human genetics, 2001, pp. 416–20.

Chicago Style

Hutchinson, S, BP Wordsworth, and PA Handford. 2001. “Marfan Syndrome Caused by a Mutation in FBN1 That Gives Rise to Cryptic Splicing and a 33 Nucleotide Insertion in the Coding Sequence.” Human Genetics 109 (4): 416–20.
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