BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 8122886)

  • 21. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.
    Olsson A; Lind L; Thornell LE; Holmberg M
    Hum Mol Genet; 2008 Jun; 17(11):1666-72. PubMed ID: 18296749
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
    van Beurden EA; de Graaf M; Wendel U; Gitzelmann R; Berger R; van den Berg IE
    Biochem Biophys Res Commun; 1997 Jul; 236(3):544-8. PubMed ID: 9245685
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.
    Flanagan JM; Rhodes M; Wilson M; Beutler E
    Br J Haematol; 2006 Jul; 134(2):233-7. PubMed ID: 16740138
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.
    Morrone A; Morreau H; Zhou XY; Zammarchi E; Kleijer WJ; Galjaard H; d'Azzo A
    Hum Mutat; 1994; 3(2):112-20. PubMed ID: 8199591
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
    Wilton SD; Chandler DC; Kakulas BA; Laing NG
    Hum Mutat; 1994; 3(2):133-40. PubMed ID: 8199594
    [TBL] [Abstract][Full Text] [Related]  

  • 26. PGK deficiency.
    Beutler E
    Br J Haematol; 2007 Jan; 136(1):3-11. PubMed ID: 17222195
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL; Gelbart T; West C; Halloran C; Beutler E
    Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel point mutation of the splicing donor site in the intron 2 of the plasmin inhibitor gene.
    Yoshinaga H; Hirosawa S; Chung DH; Miyasaka N; Aoki N; Favier R
    Thromb Haemost; 2000 Aug; 84(2):307-11. PubMed ID: 10959705
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.
    Rosenberg JB; Newman PJ; Mosesson MW; Guillin MC; Amrani DL
    Thromb Haemost; 1993 Mar; 69(3):217-20. PubMed ID: 8470043
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene.
    McCarrey JR; Thomas K
    Nature; 1987 Apr 2-8; 326(6112):501-5. PubMed ID: 3453121
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.
    Svaasand EK; Aasly J; Landsem VM; Klungland H
    Muscle Nerve; 2007 Nov; 36(5):679-84. PubMed ID: 17661373
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.
    Scholl T; Pyne MT; Russo D; Ward BE
    Am J Med Genet; 1999 Jul; 85(2):113-6. PubMed ID: 10406662
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
    Tsujino S; Shanske S; DiMauro S
    Muscle Nerve Suppl; 1995; 3():S45-9. PubMed ID: 7603527
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
    D'Andrea G; Di Perna P; Brancaccio V; Faioni EM; Castaman G; Cibelli G; Di Minno G; Margaglione M;
    Haematologica; 2003 Apr; 88(4):459-64. PubMed ID: 12681974
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene.
    Piriev NI; Shih JM; Farber DB
    Invest Ophthalmol Vis Sci; 1998 Mar; 39(3):463-70. PubMed ID: 9501854
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
    Moskowitz SM; Tieu PT; Neufeld EF
    Hum Mutat; 1993; 2(2):141-4. PubMed ID: 8318992
    [No Abstract]   [Full Text] [Related]  

  • 38. 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]  

  • 39. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.
    Wilton SD; Johnsen RD; Pedretti JR; Laing NG
    Am J Med Genet; 1993 Jun; 46(5):563-9. PubMed ID: 8322822
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A single nucleotide substitution in the phosphoglycerate kinase (PGK)-1 gene occurred after the separation of PGK-1 and PGK-2.
    Fujii H; Kanno H; Hirono A; Miwa S
    Hum Genet; 1992 Jul; 89(5):583. PubMed ID: 1634238
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.