183 related articles for article (PubMed ID: 2370049)
1. Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).
Montandon AJ; Green PM; Bentley DR; Ljung R; Nilsson IM; Giannelli F
Hum Genet; 1990 Jul; 85(2):200-4. PubMed ID: 2370049
[TBL] [Abstract][Full Text] [Related]
2. Direct carrier testing of haemophilia B by SSCP.
Martinez PA; Romey MC; Schved JF; Gris JC; Demaille J; Claustres M
Clin Lab Haematol; 1994 Mar; 16(1):15-20. PubMed ID: 7913672
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing.
Ludwig M; Brackmann HH; Olek K
Klin Wochenschr; 1991 Mar; 69(5):196-200. PubMed ID: 1674559
[TBL] [Abstract][Full Text] [Related]
4. A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients: factor IX338 New York.
Driscoll MC; Bouhassira E; Aledort LM
Blood; 1989 Aug; 74(2):737-42. PubMed ID: 2752145
[TBL] [Abstract][Full Text] [Related]
5. Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency).
Peake IR; Furlong BL; Bloom AL
Lancet; 1984 Feb; 1(8371):242-3. PubMed ID: 6142993
[TBL] [Abstract][Full Text] [Related]
6. Direct carrier detection in hemophilia B kindreds: use of modified primers (mutagenic primers) for enzymatic amplification of the factor IX gene.
Matsushita T; Tanimoto M; Yamamoto K; Sugiura I; Takamatsu J; Kamiya T; Saito H
Thromb Res; 1991 Aug; 63(3):355-61. PubMed ID: 1683496
[TBL] [Abstract][Full Text] [Related]
7. Direct carrier testing in 14 families with haemophilia B.
Bottema CD; Koeberl DD; Sommer SS
Lancet; 1989 Sep; 2(8662):526-9. PubMed ID: 2570235
[TBL] [Abstract][Full Text] [Related]
8. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
Mahajan A; Chavali S; Kabra M; Chowdhury MR; Bharadwaj D
Haematologica; 2004 Dec; 89(12):1498-503. PubMed ID: 15590401
[TBL] [Abstract][Full Text] [Related]
9. Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region.
Royle G; Van de Water NS; Berry E; Ockelford PA; Browett PJ
Br J Haematol; 1991 Feb; 77(2):191-4. PubMed ID: 2004020
[TBL] [Abstract][Full Text] [Related]
10. Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.
Green PM; Montandon AJ; Ljung R; Bentley DR; Nilsson IM; Kling S; Giannelli F
Br J Haematol; 1991 Jul; 78(3):390-7. PubMed ID: 1873221
[TBL] [Abstract][Full Text] [Related]
11. T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
Ketterling RP; Bottema CD; Koeberl DD; Ii S; Sommer SS
Hum Genet; 1991 Jul; 87(3):333-7. PubMed ID: 1864609
[TBL] [Abstract][Full Text] [Related]
12. Carrier testing and prenatal diagnosis of haemophilia B by SSCP in an Iranian family.
Karimipoor M; Zeinali S; Lak M; Safaee R
Haemophilia; 2003 Jan; 9(1):116-8. PubMed ID: 12558788
[TBL] [Abstract][Full Text] [Related]
13. Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
Aguilar-Martinez P; Romey MC; Schved JF; Gris JC; Demaille J; Claustres M
Hum Genet; 1994 Sep; 94(3):287-90. PubMed ID: 8076946
[TBL] [Abstract][Full Text] [Related]
14. Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
Vidaud D; Tartary M; Costa JM; Bahnak BR; Gispert-Sanchez S; Fressinaud E; Gazengel C; Meyer D; Goossens M; Lavergne JM
Hum Genet; 1993 Apr; 91(3):241-4. PubMed ID: 8478007
[TBL] [Abstract][Full Text] [Related]
15. Differential termination of primer extension: a novel, quantifiable method for detection of point mutations.
Picketts DJ; Cameron C; Taylor SA; Deugau KV; Lillicrap DP
Hum Genet; 1992 May; 89(2):155-7. PubMed ID: 1587524
[TBL] [Abstract][Full Text] [Related]
16. Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).
Hamaguchi M; Matsushita T; Tanimoto M; Takahashi I; Yamamoto K; Sugiura I; Takamatsu J; Ogata K; Kamiya T; Saito H
Thromb Haemost; 1991 May; 65(5):514-20. PubMed ID: 1871712
[TBL] [Abstract][Full Text] [Related]
17. Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion.
Ljung R; Green P; Sjörin E; Giannelli F; Nilsson IM
Eur J Haematol; 1992 Oct; 49(4):215-8. PubMed ID: 1464363
[TBL] [Abstract][Full Text] [Related]
18. A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.
Tsang TC; Bentley DR; Mibashan RS; Giannelli F
EMBO J; 1988 Oct; 7(10):3009-15. PubMed ID: 3181127
[TBL] [Abstract][Full Text] [Related]
19. A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.
Taylor SA; Liddell MB; Peake IR; Bloom AL; Lillicrap DP
Br J Haematol; 1990 Jun; 75(2):217-21. PubMed ID: 2372509
[TBL] [Abstract][Full Text] [Related]
20. Point mutations in four hemophilia B patients from China.
Wang NS; Chen SH; Thompson AR
Thromb Haemost; 1990 Oct; 64(2):302-6. PubMed ID: 2270538
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
