Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency-Reference-Cited by-同舟云学术

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency

Published:2009-09-17 Issue:1 Volume:127 Page:45-53
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Picard Véronique,Chen Jian-Min,Tardy Brigitte,Aillaud Marie-Françoise,Boiteux-Vergnes Christine,Dreyfus Marie,Emmerich Joseph,Lavenu-Bombled Cécile,Nowak-Göttl Ulrike,Trillot Nathalie,Aiach Martine,Alhenc-Gelas Martine

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-009-0742-6.pdf

Reference34 articles.

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2. Beauchamp NJ, Makris M, Preston FE, Peake IR, Daly ME (2000) Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency-partial/complete deletions and rearrangement of the antithrombin gene. Thromb Haemost 83:715–721

3. Björk I, Olson ST (1997) Antithrombin. A bloody important serpin. Adv Exp Med Biol 425:17–33

4. Bock SC, Prochownik EV (1987) Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency. Blood 70:1273–1278

5. Britten RJ, Stout DB, Davidson EH (1989) The current source of human Alu retrotransposons is a conserved gene shared with Old World monkey. Proc Natl Acad Sci USA 86:3718–3722

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