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Journal Abstract Search

153 related items for PubMed ID: 8956037

  • 1. 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; 8(4):326-32. PubMed ID: 8956037
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  • 2. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
    Koivisto UM, Turtola H, Aalto-Setälä K, Top B, Frants RR, Kovanen PT, Syvänen AC, Kontula K.
    J Clin Invest; 1992 Jul; 90(1):219-28. PubMed ID: 1634609
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 6. Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.
    Aalto-Setälä K, Helve E, Kovanen PT, Kontula K.
    J Clin Invest; 1989 Aug; 84(2):499-505. PubMed ID: 2760198
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  • 7. 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
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  • 8. Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
    Koivisto UM, Viikari JS, Kontula K.
    Am J Hum Genet; 1995 Oct; 57(4):789-97. PubMed ID: 7573037
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  • 10. Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.
    Slimane MN, Lestavel S, Sun X, Maatouk F, Soutar AK, Ben Farhat MH, Clavey V, Benlian P, Hammami M.
    Atherosclerosis; 2001 Feb 15; 154(3):557-65. PubMed ID: 11257256
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  • 16. [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
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  • 17. 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
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  • 18. 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 23; 36(6):900-3. PubMed ID: 2357830
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