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MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome
MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome
The Multiplex Ligation-dependant Probe Amplification assay (MLPA) detects whole-exon deletions or duplications (Schouten et al 2002). These mutations are present at a significant level in many genes such that it is financially advantageous to pre-screen all new patients using MLPA prior to point mutation analysis (Bunyan et al 2004). To further improve the mutation detection rate, it would be useful if an MLPA test could also detect common point mutations.
0022-2593
1-1
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Brown, T.
a64aae36-bb30-42df-88a2-11be394e8c89
Wycherley, R.
cbdc6103-2175-4646-8e3a-be14cfef6a8a
Score, J. C.
ea0db6ef-c17e-4915-b216-ac67c07b26b7
Harvey, J. F.
37111506-1b7a-4046-b79d-e1b4ed449381
Cross, N. C. P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Brown, T.
a64aae36-bb30-42df-88a2-11be394e8c89
Wycherley, R.
cbdc6103-2175-4646-8e3a-be14cfef6a8a
Score, J. C.
ea0db6ef-c17e-4915-b216-ac67c07b26b7
Harvey, J. F.
37111506-1b7a-4046-b79d-e1b4ed449381
Cross, N. C. P.
f87650da-b908-4a34-b31b-d62c5f186fe4

Bunyan, David J., Brown, T., Wycherley, R., Score, J. C., Harvey, J. F. and Cross, N. C. P. (2004) MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome. Journal of Medical Genetics, 41 (S75), 1-1.

Record type: Article

Abstract

The Multiplex Ligation-dependant Probe Amplification assay (MLPA) detects whole-exon deletions or duplications (Schouten et al 2002). These mutations are present at a significant level in many genes such that it is financially advantageous to pre-screen all new patients using MLPA prior to point mutation analysis (Bunyan et al 2004). To further improve the mutation detection rate, it would be useful if an MLPA test could also detect common point mutations.

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Published date: 2004

Identifiers

Local EPrints ID: 20149
URI: http://eprints.soton.ac.uk/id/eprint/20149
ISSN: 0022-2593
PURE UUID: 5df00997-e364-4419-a979-75c112eff607
ORCID for N. C. P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 02 Jun 2006
Last modified: 23 Jun 2021 01:37

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Contributors

Author: David J. Bunyan
Author: T. Brown
Author: R. Wycherley
Author: J. C. Score
Author: J. F. Harvey
Author: N. C. P. Cross ORCID iD

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