151 related articles for article (PubMed ID: 12757640)
41. Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.
Ma HW; Jiang J; Lu JF; Guo R; Niu GH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun; 22(3):251-3. PubMed ID: 15952107
[TBL] [Abstract][Full Text] [Related]
42. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
[TBL] [Abstract][Full Text] [Related]
43. Factor V deficiency.
Asselta R; Peyvandi F
Semin Thromb Hemost; 2009 Jun; 35(4):382-9. PubMed ID: 19598066
[TBL] [Abstract][Full Text] [Related]
44. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Xia XY; Cui YX; Huang YF; Pan LJ; Yang B; Wang HY; Li XJ; Shi YC; Lu HY; Zhou YC
Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
[TBL] [Abstract][Full Text] [Related]
45. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford.
Zehnder JL; Hiraki DD; Jones CD; Gross N; Grumet FC
Thromb Haemost; 1999 Sep; 82(3):1097-9. PubMed ID: 10494770
[TBL] [Abstract][Full Text] [Related]
46. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
[TBL] [Abstract][Full Text] [Related]
47. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
Lin J; Wang LY; Liu S; Pan XD; Du LP; Shi FR; Qin YW; Zhao Q; Guo HY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901
[TBL] [Abstract][Full Text] [Related]
48. Ser234Leu missense mutation in the A1 domain of factor V causing moderate factor V deficiency in a Chinese family.
Jin PP; Wang XF; Ding QL; Fu QH; Cai XH; Shen LS; Wang HL
Pathology; 2009; 41(6):566-71. PubMed ID: 19900106
[TBL] [Abstract][Full Text] [Related]
49. The prevalence of factor V (G1691A), MTHFR (C677T) and PT (G20210A) gene mutations in arterial thrombosis.
Ozmen F; Ozmen MM; Ozalp N; Akar N
Ulus Travma Acil Cerrahi Derg; 2009 Mar; 15(2):113-9. PubMed ID: 19353312
[TBL] [Abstract][Full Text] [Related]
50. [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. PubMed ID: 17278425
[TBL] [Abstract][Full Text] [Related]
51. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
Hu PY; Roth DE; Skaggs LA; Venta PJ; Tashian RE; Guibaud P; Sly WS
Hum Mutat; 1992; 1(4):288-92. PubMed ID: 1301935
[TBL] [Abstract][Full Text] [Related]
52. Inherited defects of coagulation factor V: the hemorrhagic side.
Asselta R; Tenchini ML; Duga S
J Thromb Haemost; 2006 Jan; 4(1):26-34. PubMed ID: 16409445
[TBL] [Abstract][Full Text] [Related]
53. Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene.
Hoshiya M; Christian BP; Cromie WJ; Kim H; Zhan Y; MacLaughlin DT; Donahoe PK
Birth Defects Res A Clin Mol Teratol; 2003 Oct; 67(10):868-74. PubMed ID: 14745940
[TBL] [Abstract][Full Text] [Related]
54. Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: molecular characterization by in-vitro expression.
Cai XH; Wang XF; Ding QL; Fu QH; Wang HL
Thromb Haemost; 2007 Sep; 98(3):683-5. PubMed ID: 17849061
[No Abstract] [Full Text] [Related]
55. Molecular analysis of factor V Leiden, factor V Hong Kong, factor II G20210A, methylenetetrahydrofolate reductase C677T, and A1298C mutations related to Turkish thrombosis patients.
Dölek B; Eraslan S; Eroğlu S; Kesim BE; Ulutin T; Yalçiner A; Laleli YR; Gözükirmizi N
Clin Appl Thromb Hemost; 2007 Oct; 13(4):435-8. PubMed ID: 17911197
[TBL] [Abstract][Full Text] [Related]
56. A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
Jelassi A; Najah M; Jguirim I; Maatouk F; Lestavel S; Laroussi OS; Rouis M; Boileau C; Rabès JP; Varret M; Slimane MN
Clin Chim Acta; 2008 Jun; 392(1-2):25-9. PubMed ID: 18355452
[TBL] [Abstract][Full Text] [Related]
57. Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.
van Wijk R; Nieuwenhuis K; van den Berg M; Huizinga EG; van der Meijden BB; Kraaijenhagen RJ; van Solinge WW
Blood; 2001 Jul; 98(2):358-67. PubMed ID: 11435304
[TBL] [Abstract][Full Text] [Related]
58. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
59. Rescue of fatal neonatal hemorrhage in factor V deficient mice by low level transgene expression.
Yang TL; Cui J; Taylor JM; Yang A; Gruber SB; Ginsburg D
Thromb Haemost; 2000 Jan; 83(1):70-7. PubMed ID: 10669158
[TBL] [Abstract][Full Text] [Related]
60. [Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene].
Wang WB; Wang HL; Huang CY; Fang Y; Fu QH; Zhou RF; Xie S; Ding QL; Wu WM; Wang XF; Hu YQ; Wang ZY
Zhonghua Xue Ye Xue Za Zhi; 2003 Sep; 24(9):449-51. PubMed ID: 14575584
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]