Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening-Reference-Cited by-同舟云学术

Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening

Published:1993-08 Issue:4 Volume:84 Page:656-661
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Chowdhury V.,Olds R. J.,Lane D. A.,Conard J.,Pabinger I.,Ryan K.,Bauer K. A.,Bhavnani M.,Abildgaard U.,Finazzi G.,Castaman G.,Mannucci P. M.,Thein S. L.

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1993.tb03142.x/fullpdf

Reference23 articles.

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

2. Assignment of the human antithromhin III structural gene to chromosome 1q23–25

3. Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site

4. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

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