BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 12406899)

  • 41. [Genetic analysis of an inherited afibrinogenemia family caused by a novel frameshift mutation in FGA].
    Xue F; Ge J; Gu DS; DU WT; Sui T; Zhao HF; Zhang L; Yang RC
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2009 Aug; 17(4):1021-5. PubMed ID: 19698251
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Activation of cryptic splice sites in three patients with chronic granulomatous disease.
    de Boer M; van Leeuwen K; Hauri-Hohl M; Roos D
    Mol Genet Genomic Med; 2019 Sep; 7(9):e854. PubMed ID: 31364312
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Congenital fibrinogen disorder caused by digenic mutations of the
    Wang X; Tang N; Shen N; Lu Y; Li D
    Hematology; 2020 Dec; 25(1):145-148. PubMed ID: 32228225
    [No Abstract]   [Full Text] [Related]  

  • 44. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.
    Gallinaro L; Sartorello F; Pontara E; Cattini MG; Bertomoro A; Bartoloni L; Pagnan A; Casonato A
    Thromb Haemost; 2006 Dec; 96(6):711-6. PubMed ID: 17139363
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.
    Ohno K; Tsujino A; Shen XM; Milone M; Engel AG
    J Med Genet; 2005 Aug; 42(8):e53. PubMed ID: 16061559
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Factors affecting authentic 5' splice site selection in plant nuclei.
    McCullough AJ; Lou H; Schuler MA
    Mol Cell Biol; 1993 Mar; 13(3):1323-31. PubMed ID: 8441378
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N
    Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.
    Furuya M; Kobayashi H; Baba M; Ito T; Tanaka R; Nakatani Y
    BMC Med Genomics; 2018 May; 11(1):42. PubMed ID: 29720200
    [TBL] [Abstract][Full Text] [Related]  

  • 49. A single base mutation in the 5' splice site of intron 7 of the lck gene is responsible for the deletion of exon 7 in lck mRNA of the JCaM1 cell line.
    Rouer E; Brule F; Benarous R
    Oncogene; 1999 Jul; 18(29):4262-8. PubMed ID: 10435639
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Requirements for mini-exon inclusion in potato invertase mRNAs provides evidence for exon-scanning interactions in plants.
    Simpson CG; Hedley PE; Watters JA; Clark GP; McQuade C; Machray GC; Brown JW
    RNA; 2000 Mar; 6(3):422-33. PubMed ID: 10744026
    [TBL] [Abstract][Full Text] [Related]  

  • 51. The molecular basis of inherited afibrinogenaemia.
    Neerman-Arbez M
    Thromb Haemost; 2001 Jul; 86(1):154-63. PubMed ID: 11487003
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.
    Mayer K; Ballhausen W; Leistner W; Rott H
    Biochim Biophys Acta; 2000 Nov; 1502(3):495-507. PubMed ID: 11068191
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Fibrinogen Aα gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients.
    Moazzeni A; Naderi M; Dorgalaleh A; Alizadeh S
    Blood Coagul Fibrinolysis; 2023 Dec; 34(8):517-522. PubMed ID: 37823427
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
    Bateman JF; Chan D; Moeller I; Hannagan M; Cole WG
    Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Differential GC content between exons and introns establishes distinct strategies of splice-site recognition.
    Amit M; Donyo M; Hollander D; Goren A; Kim E; Gelfman S; Lev-Maor G; Burstein D; Schwartz S; Postolsky B; Pupko T; Ast G
    Cell Rep; 2012 May; 1(5):543-56. PubMed ID: 22832277
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum.
    O'Neill JP; Rogan PK; Cariello N; Nicklas JA
    Mutat Res; 1998 Nov; 411(3):179-214. PubMed ID: 9804951
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon.
    Spena S; Tenchini ML; Buratti E
    RNA; 2006 Jun; 12(6):948-58. PubMed ID: 16611940
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A novel nonsense mutation in the FGA gene in a Chinese family with congenital afibrinogenaemia.
    Wu S; Wang Z; Dong N; Bai X; Ruan C
    Blood Coagul Fibrinolysis; 2005 Apr; 16(3):221-6. PubMed ID: 15795544
    [TBL] [Abstract][Full Text] [Related]  

  • 59. FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.
    Casini A; Lukowski S; Quintard VL; Crutu A; Zak M; Regazzoni S; de Moerloose P; Neerman-Arbez M
    Thromb Res; 2014 May; 133(5):868-74. PubMed ID: 24560896
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Genetic analysis of a Chinese family with inherited afibrinogenemia].
    Fang Y; Wang XF; Wang HL; Fu QH; Wu WM; Ding QL; Dai J; Hu YQ; Wang ZY
    Zhonghua Yi Xue Za Zhi; 2003 Dec; 83(23):2054-7. PubMed ID: 14703415
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.