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Journal Abstract Search

137 related items for PubMed ID: 8004803

  • 21. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
    Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C.
    Hum Mutat; 1992; 1(4):325-32. PubMed ID: 1301940
    [Abstract] [Full Text] [Related]

  • 22. A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects.
    Leren TP, Solberg K, Røsby O, Rødningen OK, Tonstad S, Ose L, Berg K.
    Clin Genet; 1992 Nov; 42(5):224-8. PubMed ID: 1486698
    [Abstract] [Full Text] [Related]

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  • 24. An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia.
    Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N.
    Clin Genet; 1996 Feb; 49(2):88-90. PubMed ID: 8740919
    [Abstract] [Full Text] [Related]

  • 25. New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia.
    Tashiro J, Endo M, Bujo H, Shinomiya M, Morisaki N, Saito Y.
    Eur J Clin Invest; 1998 Sep; 28(9):712-9. PubMed ID: 9767370
    [Abstract] [Full Text] [Related]

  • 26. FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.
    Cavanaugh JA, Easteal S, Simons LA, Thomas DW, Serjeantson SW.
    Hum Mutat; 1994 Sep; 4(4):276-80. PubMed ID: 7866407
    [Abstract] [Full Text] [Related]

  • 27. Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
    Lelli N, Garuti R, Ghisellini M, Tiozzo R, Rolleri M, Aimale V, Ginocchio E, Naselli A, Bertolini S, Calandra S.
    J Lipid Res; 1995 Jun; 36(6):1315-24. PubMed ID: 7545204
    [Abstract] [Full Text] [Related]

  • 28. Use of polymerase chain reaction to detect heterozygous familial hypercholesterolemia.
    Keinänen M, Ojala JP, Helve E, Aalto-Setälä K, Kontula K, Kovanen PT.
    Clin Chem; 1990 Jun; 36(6):900-3. PubMed ID: 2357830
    [Abstract] [Full Text] [Related]

  • 29. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
    Al-Allaf FA, Alashwal A, Abduljaleel Z, Taher MM, Bouazzaoui A, Abalkhail H, Al-Allaf AF, Athar M.
    Acta Biochim Pol; 2017 Jun; 64(1):75-79. PubMed ID: 27878139
    [Abstract] [Full Text] [Related]

  • 30. Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
    Nissen PH, Damgaard D, Stenderup A, Nielsen GG, Larsen ML, Faergeman O.
    BMC Med Genet; 2006 Jun 26; 7():55. PubMed ID: 16796766
    [Abstract] [Full Text] [Related]

  • 31. Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia.
    Cantafora A, Blotta I, Pino E, Pisciotta L, Calandra S, Bertolini S.
    Electrophoresis; 2004 Nov 26; 25(21-22):3882-9. PubMed ID: 15565673
    [Abstract] [Full Text] [Related]

  • 32. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
    Chiou KR, Charng MJ.
    Am J Cardiol; 2010 Jun 15; 105(12):1752-8. PubMed ID: 20538126
    [Abstract] [Full Text] [Related]

  • 33. Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
    Lee WK, Haddad L, Macleod MJ, Dorrance AM, Wilson DJ, Gaffney D, Dominiczak MH, Packard CJ, Day IN, Humphries SE, Dominiczak AF.
    J Med Genet; 1998 Jul 15; 35(7):573-8. PubMed ID: 9678702
    [Abstract] [Full Text] [Related]

  • 34. Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
    Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L.
    Hum Genet; 1995 Aug 15; 96(2):241-2. PubMed ID: 7635482
    [Abstract] [Full Text] [Related]

  • 35. Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).
    Langlois S, Kastelein JJ, Hayden MR.
    Am J Hum Genet; 1988 Jul 15; 43(1):60-8. PubMed ID: 2837085
    [Abstract] [Full Text] [Related]

  • 36. Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
    Jensen HK, Jensen TG, Jensen LG, Hansen PS, Kjeldsen M, Andresen BS, Nielsen V, Meinertz H, Hansen AB, Bolund L.
    Hum Mutat; 1994 Jul 15; 4(2):102-13. PubMed ID: 7981713
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  • 38. Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis.
    Top B, van der Zee A, Havekes LM, van 't Hooft FM, Frants RR.
    Hum Genet; 1993 Jun 15; 91(5):480-4. PubMed ID: 8314561
    [Abstract] [Full Text] [Related]

  • 39. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J, Huff E, Janecka L, Hegele RA.
    Hum Mutat; 2001 Oct 15; 18(4):359. PubMed ID: 11668627
    [Abstract] [Full Text] [Related]

  • 40. An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.
    Rabacchi C, Wunsch A, Ghisellini M, Marino M, Pisciotta L, Bertolini S, Calandra S.
    Clin Chim Acta; 2009 Aug 15; 406(1-2):75-80. PubMed ID: 19467224
    [Abstract] [Full Text] [Related]

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