302 related articles for article (PubMed ID: 3155573)
1. 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]
2. 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]
3. 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]
4. 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]
5. Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.
Lehrman MA; Goldstein JL; Brown MS; Russell DW; Schneider WJ
Cell; 1985 Jul; 41(3):735-43. PubMed ID: 3924410
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.
Russell DW; Lehrman MA; Südhof TC; Yamamoto T; Davis CG; Hobbs HH; Brown MS; Goldstein JL
Cold Spring Harb Symp Quant Biol; 1986; 51 Pt 2():811-9. PubMed ID: 3472763
[TBL] [Abstract][Full Text] [Related]
15. The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.
Davis CG; Lehrman MA; Russell DW; Anderson RG; Brown MS; Goldstein JL
Cell; 1986 Apr; 45(1):15-24. PubMed ID: 3955657
[TBL] [Abstract][Full Text] [Related]
16. Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
Amsellem S; Briffaut D; Carrié A; Rabès JP; Girardet JP; Fredenrich A; Moulin P; Krempf M; Reznik Y; Vialettes B; de Gennes JL; Brukert E; Benlian P
Hum Genet; 2002 Dec; 111(6):501-10. PubMed ID: 12436241
[TBL] [Abstract][Full Text] [Related]
17. The LDL receptor: oligonucleotide-directed mutagenesis of the cytoplasmic domain.
Davis CG
Ciba Found Symp; 1987; 130():34-51. PubMed ID: 3443032
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Cells of an internalization-defective familial hypercholesterolemia mutant secrete low density lipoprotein receptors.
Miyake Y; Funahashi T; Yamamoto A
J Biochem; 1987 Jun; 101(6):1355-60. PubMed ID: 3312181
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
