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Berg LP, Grundy CB, Thomas F, et al. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics. 1992;13(4):1359-61doi: 10.1016/0888-7543(92)90070-9.
Berg, L. P., Grundy, C. B., Thomas, F., Millar, D. S., Green, P. J., Slomski, R., Reiss, J., Kakkar, V. V., & Cooper, D. N. (1992). De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics, 13(4), 1359-61. https://doi.org/10.1016/0888-7543(92)90070-9
Berg, L P, et al. "De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis." Genomics vol. 13,4 (1992): 1359-61. doi: https://doi.org/10.1016/0888-7543(92)90070-9
Berg LP, Grundy CB, Thomas F, Millar DS, Green PJ, Slomski R, Reiss J, Kakkar VV, Cooper DN. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics. 1992 Aug;13(4):1359-61. doi: 10.1016/0888-7543(92)90070-9. PMID: 1505975.
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Genomics. 1992 Aug;13(4):1359-61. doi: 10.1016/0888-7543(92)90070-9.

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.

Genomics

L P Berg, C B Grundy, F Thomas, D S Millar, P J Green, R Slomski, J Reiss, V V Kakkar, D N Cooper

Affiliations

  1. Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, United Kingdom.

PMID: 1505975 DOI: 10.1016/0888-7543(92)90070-9

Abstract

A single basepair substitution at conserved position -1 in the exon 3a donor splice site of the liver-expressed antithrombin III (AT3) gene was detected by PCR/direct sequencing in a patient with sporadic type 1 ATIII deficiency and recurrent venous thrombosis. The lesion, a heterozygous silent AAG----AAA transition at Lys 176 occurred de novo in the proposita. Ectopic transcript analysis of lymphocyte mRNA demonstrated the presence of an abnormally sized mRNA specific to the patient which was shown by cDNA sequencing to lack exon 3a. Oligonucleotide discriminant hybridization demonstrated the absence of any detectable transcript of normal length derived from the disease allele. These findings demonstrate the utility of ectopic transcript analysis in the characterization of defects of mRNA splicing.

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