Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 97

1.

Insertions/deletions in the antithrombin gene: 3 mutations associated with non-expression.

Daly M, Perry DJ, Harper PL, Daly HM, Roques AW, Carrell RW.

Thromb Haemost. 1992 May 4;67(5):521-5.

PMID:
1325679
[PubMed - indexed for MEDLINE]
2.

Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation.

Jochmans K, Lissens W, Yin T, Michiels JJ, van der Luit L, Peerlinck K, De Waele M, Liebaers I.

Blood. 1994 Dec 1;84(11):3742-8.

PMID:
7949130
[PubMed - indexed for MEDLINE]
Free Article
3.

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

Chowdhury V, Olds RJ, Lane DA, Conard J, Pabinger I, Ryan K, Bauer KA, Bhavnani M, Abildgaard U, Finazzi G, et al.

Br J Haematol. 1993 Aug;84(4):656-61.

PMID:
8217824
[PubMed - indexed for MEDLINE]
4.

Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.

Olds RJ, Lane DA, Ireland H, Leone G, De Stefano V, Wiesel ML, Cazenave JP, Thein SL.

Br J Haematol. 1991 Jul;78(3):408-13.

PMID:
1873223
[PubMed - indexed for MEDLINE]
5.

Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

van Boven HH, Olds RJ, Thein SL, Reitsma PH, Lane DA, Briët E, Vandenbroucke JP, Rosendaal FR.

Blood. 1994 Dec 15;84(12):4209-13.

PMID:
7994035
[PubMed - indexed for MEDLINE]
Free Article
6.

Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.

Vidaud D, Emmerich J, Sirieix ME, Sié P, Alhenc-Gelas M, Aiach M.

Blood. 1991 Nov 1;78(9):2305-9.

PMID:
1932746
[PubMed - indexed for MEDLINE]
Free Article
7.

A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.

Olds RJ, Lane DA, Finazzi G, Barbui T, Thein SL.

Blood. 1990 Dec 1;76(11):2182-6.

PMID:
1979501
[PubMed - indexed for MEDLINE]
Free Article
8.

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

Picard V, Chen JM, Tardy B, Aillaud MF, Boiteux-Vergnes C, Dreyfus M, Emmerich J, Lavenu-Bombled C, Nowak-Göttl U, Trillot N, Aiach M, Alhenc-Gelas M.

Hum Genet. 2010 Jan;127(1):45-53. doi: 10.1007/s00439-009-0742-6. Epub 2009 Sep 17.

PMID:
19760264
[PubMed - indexed for MEDLINE]
9.
10.

Recurrent deletion in the human antithrombin III gene.

Grundy CB, Thomas F, Millar DS, Krawczak M, Melissari E, Lindo V, Moffat E, Kakkar VV, Cooper DN.

Blood. 1991 Aug 15;78(4):1027-32.

PMID:
1868237
[PubMed - indexed for MEDLINE]
Free Article
11.

A novel amino acid substitution in the reactive site of a congenital variant antithrombin. Antithrombin pescara, ARG393 to pro, caused by a CGT to CCT mutation.

Lane DA, Erdjument H, Thompson E, Panico M, Di Marzo V, Morris HR, Leone G, De Stefano V, Thein SL.

J Biol Chem. 1989 Jun 15;264(17):10200-4.

PMID:
2722864
[PubMed - indexed for MEDLINE]
Free Article
12.

Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia.

Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL.

Biochemistry. 1993 Apr 27;32(16):4216-24.

PMID:
8476848
[PubMed - indexed for MEDLINE]
13.

[Type I antithrombin deficiency due to 13389G deletion in antithrombin gene].

Fu Q, Xu X, Ding Q, Hu Y, Wang X, Wang H.

Zhonghua Xue Ye Xue Za Zhi. 2002 Nov;23(11):588-90. Chinese.

PMID:
12482344
[PubMed - indexed for MEDLINE]
14.

The molecular basis of antithrombin deficiency in Belgian and Dutch families.

Jochmans K, Lissens W, Seneca S, Capel P, Chatelain B, Meeus P, Osselaer JC, Peerlinck K, Seghers J, Slacmeulder M, Stibbe J, van de Loo J, Vermylen J, Liebaers I, De Waele M.

Thromb Haemost. 1998 Sep;80(3):376-81.

PMID:
9759613
[PubMed - indexed for MEDLINE]
15.

[A novel mutation in antithrombin gene results in hereditary antithrombin deficiency].

Zhang FH, Ding QL, Wu JS, Zhou RF, Wang XF, Xu XC.

Zhonghua Xue Ye Xue Za Zhi. 2006 Sep;27(9):598-601. Chinese.

PMID:
17278425
[PubMed - indexed for MEDLINE]
16.

Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.

Thromb Haemost. 1996 Aug;76(2):143-50.

PMID:
8865520
[PubMed - indexed for MEDLINE]
17.

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

Okajima K, Abe H, Maeda S, Motomura M, Tsujihata M, Nagataki S, Okabe H, Takatsuki K.

Blood. 1993 Mar 1;81(5):1300-5.

PMID:
8443391
[PubMed - indexed for MEDLINE]
Free Article
18.

Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients.

Kurihara M, Watanabe K, Inoue S, Wada Y, Ono M, Wakiyama M, Iida H, Kinoshita S, Hamasaki N.

Thromb Res. 2005;115(5):351-8.

PMID:
15733967
[PubMed - indexed for MEDLINE]
19.

Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

Gandrille S, Vidaud D, Emmerich J, Clauser E, Sié P, Fiessinger JN, Alhenc-Gelas M, Priollet P, Aiach M.

Br J Haematol. 1991 Jul;78(3):414-20.

PMID:
1873224
[PubMed - indexed for MEDLINE]
20.

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

Tahara T, Kraus JP, Rosenberg LE.

Proc Natl Acad Sci U S A. 1990 Feb;87(4):1372-6.

PMID:
2154743
[PubMed - indexed for MEDLINE]
Free PMC Article
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk