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Journal Abstract Search

137 related items for PubMed ID: 8004803

  • 1. An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia.
    Schlüter G, Wick U.
    Clin Genet; 1994 Feb; 45(2):84-7. PubMed ID: 8004803
    [Abstract] [Full Text] [Related]

  • 2. Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
    Chae JJ, Kim SH, Kim UK, Han KH, Kim HS, Kastner DL, Namkoong Y, Park YB, Lee CC.
    Clin Genet; 1999 May; 55(5):325-31. PubMed ID: 10422802
    [Abstract] [Full Text] [Related]

  • 3. A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
    Koivisto UM, Kontula K.
    Hum Mutat; 1996 May; 8(4):326-32. PubMed ID: 8956037
    [Abstract] [Full Text] [Related]

  • 4. The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
    Shawar SM, Al-Drees MA, Ramadan AR, Ali NH, Alfadhli SM.
    Atherosclerosis; 2012 Feb; 220(2):429-36. PubMed ID: 22129472
    [Abstract] [Full Text] [Related]

  • 5. Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
    Chae JJ, Park YB, Kim SH, Hong SS, Song GJ, Han KH, Namkoong Y, Kim HS, Lee CC.
    Hum Genet; 1997 Feb; 99(2):155-63. PubMed ID: 9048913
    [Abstract] [Full Text] [Related]

  • 6. A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.
    Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K, Leren TP.
    Clin Genet; 1992 Dec; 42(6):288-95. PubMed ID: 1362925
    [Abstract] [Full Text] [Related]

  • 7. Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).
    Garuti R, Lelli N, Barozzini M, Tiozzo R, Ghisellini M, Simone ML, Li Volti S, Garozzo R, Mollica F, Vergoni W, Bertolini S, Calandra S.
    Atherosclerosis; 1996 Mar; 121(1):105-17. PubMed ID: 8678915
    [Abstract] [Full Text] [Related]

  • 8. Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia.
    Neff D, Ruschitzka F, Hersberger M, Enseleit F, Hürlimann D, Noll G, Lüscher T, Hänseler E.
    Clin Chem Lab Med; 2003 Mar; 41(3):266-71. PubMed ID: 12705331
    [Abstract] [Full Text] [Related]

  • 9. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
    Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J.
    Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
    [Abstract] [Full Text] [Related]

  • 10. Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.
    Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ.
    Hum Genet; 1997 Aug; 100(2):266-70. PubMed ID: 9254862
    [Abstract] [Full Text] [Related]

  • 11. Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.
    Theart L, Kotze MJ, Langenhoven E, Loubser O, Peeters AV, Lintott CJ, Scott RS.
    J Med Genet; 1995 May; 32(5):379-82. PubMed ID: 7616546
    [Abstract] [Full Text] [Related]

  • 12. A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
    Lelli N, Garuti R, Pedrazzi P, Ghisellini M, Simone ML, Tiozzo R, Cattin L, Valenti M, Rolleri M, Bertolini S.
    Hum Genet; 1994 May; 93(5):538-40. PubMed ID: 8168830
    [Abstract] [Full Text] [Related]

  • 13. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR, Tao QM, Chen JZ, Tao M, Guo XG, Shang YP, Zhu JH, Zhang FR, Zheng LR, Wang XX.
    Sheng Li Xue Bao; 2004 Oct 25; 56(5):566-72. PubMed ID: 15497035
    [Abstract] [Full Text] [Related]

  • 14. Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
    Faiz F, Allcock RJ, Hooper AJ, van Bockxmeer FM.
    Atherosclerosis; 2013 Oct 25; 230(2):249-55. PubMed ID: 24075752
    [Abstract] [Full Text] [Related]

  • 15. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D, Wu B, Li Y, Heng W, Zhong H, Mu Y, Wang J.
    J Hum Genet; 2001 Oct 25; 46(3):152-4. PubMed ID: 11310584
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
    Rabacchi C, Bigazzi F, Puntoni M, Sbrana F, Sampietro T, Tarugi P, Bertolini S, Calandra S.
    J Clin Lipidol; 2016 Oct 25; 10(4):944-952.e1. PubMed ID: 27578127
    [Abstract] [Full Text] [Related]

  • 17. Genetic analysis in a compound heterozygote family with familial hypercholesterolemia.
    Wang F, Fan Q, Tao R, Gu G, Zhang R, Xi R.
    Mol Med Rep; 2018 Jun 25; 17(6):8439-8449. PubMed ID: 29693183
    [Abstract] [Full Text] [Related]

  • 18. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
    Jensen HK, Jensen LG, Meinertz H, Hansen PS, Gregersen N, Faergeman O.
    Atherosclerosis; 1999 Oct 25; 146(2):337-44. PubMed ID: 10532689
    [Abstract] [Full Text] [Related]

  • 19. Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia.
    Rüdiger NS, Hansen PS, Jørgensen M, Faergeman O, Bolund L, Gregersen N.
    Eur J Biochem; 1991 May 23; 198(1):107-11. PubMed ID: 2040272
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
    Callis M, Jansen S, Thiart R, de Villiers JN, Raal FJ, Kotze MJ.
    Mol Cell Probes; 1998 Jun 23; 12(3):149-52. PubMed ID: 9664576
    [Abstract] [Full Text] [Related]

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