112 related articles for article (PubMed ID: 3549308)
1. Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.
Horsthemke B; Beisiegel U; Dunning A; Havinga JR; Williamson R; Humphries S
Eur J Biochem; 1987 Apr; 164(1):77-81. PubMed ID: 3549308
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. 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; 198(1):107-11. PubMed ID: 2040272
[TBL] [Abstract][Full Text] [Related]
4. Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.
Hobbs HH; Brown MS; Goldstein JL; Russell DW
J Biol Chem; 1986 Oct; 261(28):13114-20. PubMed ID: 3020025
[TBL] [Abstract][Full Text] [Related]
5. Low-density lipoprotein receptor mutation that deletes exons 2 and 3 by Alu-Alu recombination.
Kigawa K; Kihara K; Miyake Y; Tajima S; Funahashi T; Yamamura T; Yamamoto A
J Biochem; 1993 Mar; 113(3):372-6. PubMed ID: 8486609
[TBL] [Abstract][Full Text] [Related]
6. 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
[TBL] [Abstract][Full Text] [Related]
7. Identification of deletions in the human low density lipoprotein receptor gene.
Horsthemke B; Dunning A; Humphries S
J Med Genet; 1987 Mar; 24(3):144-7. PubMed ID: 3572996
[TBL] [Abstract][Full Text] [Related]
8. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.
Lehrman MA; Russell DW; Goldstein JL; Brown MS
J Biol Chem; 1987 Mar; 262(7):3354-61. PubMed ID: 3818645
[TBL] [Abstract][Full Text] [Related]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.
Lelli N; Ghisellini M; Gualdi R; Tiozzo R; Calandra S; Gaddi A; Ciarrocchi A; Arca M; Fazio S; Coviello DA
Arterioscler Thromb; 1991; 11(2):234-43. PubMed ID: 1998642
[TBL] [Abstract][Full Text] [Related]
11. Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.
Lehrman MA; Russell DW; Goldstein JL; Brown MS
Proc Natl Acad Sci U S A; 1986 Jun; 83(11):3679-83. PubMed ID: 3012527
[TBL] [Abstract][Full Text] [Related]
12. Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia.
Horsthemke B; Kessling AM; Seed M; Wynn V; Williamson R; Humphries SE
Hum Genet; 1985; 71(1):75-8. PubMed ID: 2993159
[TBL] [Abstract][Full Text] [Related]
13. Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia.
Lehrman MA; Goldstein JL; Russell DW; Brown MS
Cell; 1987 Mar; 48(5):827-35. PubMed ID: 3815525
[TBL] [Abstract][Full Text] [Related]
14. Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.
Lelli N; Ghisellini M; Calandra S; Gaddi A; Ciarrocchi A; Coviello DA; Bertolini S
Hum Genet; 1991 Feb; 86(4):359-62. PubMed ID: 1999337
[TBL] [Abstract][Full Text] [Related]
15. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.
Lehrman MA; Schneider WJ; Südhof TC; Brown MS; Goldstein JL; Russell DW
Science; 1985 Jan; 227(4683):140-6. PubMed ID: 3155573
[TBL] [Abstract][Full Text] [Related]
16. Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia.
Yamakawa K; Takada K; Yanagi H; Tsuchiya S; Kawai K; Nakagawa S; Kajiyama G; Hamaguchi H
Hum Genet; 1989 Jul; 82(4):317-21. PubMed ID: 2544509
[TBL] [Abstract][Full Text] [Related]
17. Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.
Miyake Y; Tajima S; Funahashi T; Yamamoto A
J Biol Chem; 1989 Oct; 264(28):16584-90. PubMed ID: 2777800
[TBL] [Abstract][Full Text] [Related]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia.
Rüdiger NS; Heinsvig EM; Hansen FA; Faergeman O; Bolund L; Gregersen N
Clin Genet; 1991 Jun; 39(6):451-62. PubMed ID: 1863993
[TBL] [Abstract][Full Text] [Related]
20. Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia.
Bertolini S; Garuti R; Lelli W; Rolleri M; Tiozzo RM; Ghisellini M; Simone ML; Masturzo P; Elicio NC; Stefanutti C
Arterioscler Thromb Vasc Biol; 1995 Jan; 15(1):81-8. PubMed ID: 7749819
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
