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Journal Abstract Search

141 related items for PubMed ID: 8486760

  • 21. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
    Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, Ding JH, Roe CR.
    Mol Genet Metab; 2001 May; 73(1):64-70. PubMed ID: 11350184
    [Abstract] [Full Text] [Related]

  • 22. Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia.
    Kotani Y, Shiota M, Umemoto M, Tsuritani M, Hoshiai H.
    Am J Obstet Gynecol; 2010 Jul; 203(1):e10-1. PubMed ID: 20471629
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  • 23. A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
    Park JK, O'Donnell JJ, Shih VE, Gusella JF, Ramesh V.
    Hum Mutat; 1992 Jul; 1(4):293-7. PubMed ID: 1301936
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  • 24. An aberrant splicing using a 3' cryptic splice site within the CH1 exon induces truncated mu-chain production.
    Komori T, Sugiyama H.
    Immunology; 1995 May; 85(1):166-70. PubMed ID: 7635518
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  • 25. 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
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  • 26. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
    Parkinson DB, Thakker RV.
    Nat Genet; 1992 May; 1(2):149-52. PubMed ID: 1302009
    [Abstract] [Full Text] [Related]

  • 27. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
    Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV.
    Am J Med Genet; 1996 Jun 14; 63(3):461-7. PubMed ID: 8737653
    [Abstract] [Full Text] [Related]

  • 28. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
    Zhang DL, Ji L, Li YD.
    Yi Chuan Xue Bao; 2004 May 14; 31(5):431-43. PubMed ID: 15478601
    [Abstract] [Full Text] [Related]

  • 29. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
    Pepe CM, Saraco NI, Baquedano MS, Guercio G, Vaiani E, Marino R, Pandey AV, Flück CE, Rivarola MA, Belgorosky A.
    Clin Endocrinol (Oxf); 2007 Nov 14; 67(5):698-705. PubMed ID: 17608756
    [Abstract] [Full Text] [Related]

  • 30. Characterization of three splice variants and genomic organization of the mouse BMAL1 gene.
    Yu W, Ikeda M, Abe H, Honma S, Ebisawa T, Yamauchi T, Honma K, Nomura M.
    Biochem Biophys Res Commun; 1999 Jul 14; 260(3):760-7. PubMed ID: 10403839
    [Abstract] [Full Text] [Related]

  • 31. [Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)].
    Plöchl E, Bachmann C, Stöllinger O, Colombo JP, Rassem T, Czihak G.
    Padiatr Padol; 1982 Jul 14; 17(2):371-82. PubMed ID: 7099689
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  • 37. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
    Okubo M, Aoyama Y, Murase T.
    Biochem Biophys Res Commun; 1996 Jul 16; 224(2):493-9. PubMed ID: 8702417
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  • 38. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
    Häberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch HG.
    Hum Mutat; 2003 Apr 16; 21(4):444. PubMed ID: 12655559
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  • 39. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency.
    Vreken P, Niessen RW, Peters M, Schaap MC, Zuithoff-Rijntjes JG, Sturk A.
    Thromb Haemost; 1995 Aug 16; 74(2):584-9. PubMed ID: 8584988
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