157 related articles for article (PubMed ID: 2294743)
1. Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.
Devlin RH; Deeb S; Brunzell J; Hayden MR
Am J Hum Genet; 1990 Jan; 46(1):112-9. PubMed ID: 2294743
[TBL] [Abstract][Full Text] [Related]
2. A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency.
Okubo M; Horinishi A; Saito M; Ebara T; Endo Y; Kaku K; Murase T; Eto M
Mol Genet Metab; 2007 Nov; 92(3):229-33. PubMed ID: 17706445
[TBL] [Abstract][Full Text] [Related]
3. A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
Ishimura-Oka K; Semenkovich CF; Faustinella F; Goldberg IJ; Shachter N; Smith LC; Coleman T; Hide WA; Brown WV; Oka K
J Lipid Res; 1992 May; 33(5):745-54. PubMed ID: 1619366
[TBL] [Abstract][Full Text] [Related]
4. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
Monsalve MV; Henderson H; Roederer G; Julien P; Deeb S; Kastelein JJ; Peritz L; Devlin R; Bruin T; Murthy MR
J Clin Invest; 1990 Sep; 86(3):728-34. PubMed ID: 1975597
[TBL] [Abstract][Full Text] [Related]
5. Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.
Pousi B; Hautala T; Heikkinen J; Pajunen L; Kivirikko KI; Myllylä R
Am J Hum Genet; 1994 Nov; 55(5):899-906. PubMed ID: 7977351
[TBL] [Abstract][Full Text] [Related]
6. Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
Henderson HE; Ma Y; Hassan MF; Monsalve MV; Marais AD; Winkler F; Gubernator K; Peterson J; Brunzell JD; Hayden MR
J Clin Invest; 1991 Jun; 87(6):2005-11. PubMed ID: 1674945
[TBL] [Abstract][Full Text] [Related]
7. The lipoprotein lipase-encoding human gene: sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence.
Chuat JC; Raisonnier A; Etienne J; Galibert F
Gene; 1992 Jan; 110(2):257-61. PubMed ID: 1537564
[TBL] [Abstract][Full Text] [Related]
8. Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
Takagi A; Ikeda Y; Tsutsumi Z; Shoji T; Yamamoto A
J Clin Invest; 1992 Feb; 89(2):581-91. PubMed ID: 1737848
[TBL] [Abstract][Full Text] [Related]
9. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
Kornreich R; Bishop DF; Desnick RJ
J Biol Chem; 1990 Jun; 265(16):9319-26. PubMed ID: 2160973
[TBL] [Abstract][Full Text] [Related]
10. Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.
Benlian P; Etienne J; de Gennes JL; Noé L; Brault D; Raisonnier A; Arnault F; Hamelin J; Foubert L; Chuat JC
J Lipid Res; 1995 Feb; 36(2):356-66. PubMed ID: 7751824
[TBL] [Abstract][Full Text] [Related]
11. Organization of the human lipoprotein lipase gene and evolution of the lipase gene family.
Kirchgessner TG; Chuat JC; Heinzmann C; Etienne J; Guilhot S; Svenson K; Ameis D; Pilon C; d'Auriol L; Andalibi A
Proc Natl Acad Sci U S A; 1989 Dec; 86(24):9647-51. PubMed ID: 2602366
[TBL] [Abstract][Full Text] [Related]
12. Structure and polymorphic map of human lipoprotein lipase gene.
Oka K; Tkalcevic GT; Nakano T; Tucker H; Ishimura-Oka K; Brown WV
Biochim Biophys Acta; 1990 May; 1049(1):21-6. PubMed ID: 1972631
[TBL] [Abstract][Full Text] [Related]
13. Recent polymorphic insertion of an Alu repeat in the baboon lipoprotein lipase (LPL) gene.
Cole SA; Birnbaum S; Hixson JE
Gene; 1997 Jul; 193(2):197-201. PubMed ID: 9256077
[TBL] [Abstract][Full Text] [Related]
14. A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
Ishimura-Oka K; Faustinella F; Kihara S; Smith LC; Oka K; Chan L
Am J Hum Genet; 1992 Jun; 50(6):1275-80. PubMed ID: 1598907
[TBL] [Abstract][Full Text] [Related]
15. A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.
Langlois S; Deeb S; Brunzell JD; Kastelein JJ; Hayden MR
Proc Natl Acad Sci U S A; 1989 Feb; 86(3):948-52. PubMed ID: 2536938
[TBL] [Abstract][Full Text] [Related]
16. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.
Marcus S; Hellgren D; Lambert B; Fällström SP; Wahlström J
Hum Genet; 1993 Jan; 90(5):477-82. PubMed ID: 8381385
[TBL] [Abstract][Full Text] [Related]
17. The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.
Nevin DN; Brunzell JD; Deeb SS
Arterioscler Thromb; 1994 Jun; 14(6):869-73. PubMed ID: 8199176
[TBL] [Abstract][Full Text] [Related]
18. The structure of the mouse lipoprotein lipase gene: a B1 repetitive element is inserted into the 3' untranslated region of the mRNA.
Zechner R; Newman TC; Steiner E; Breslow JL
Genomics; 1991 Sep; 11(1):62-76. PubMed ID: 1765386
[TBL] [Abstract][Full Text] [Related]
19. ALL-1 tandem duplication in acute myeloid leukemia with a normal karyotype involves homologous recombination between Alu elements.
Schichman SA; Caligiuri MA; Strout MP; Carter SL; Gu Y; Canaani E; Bloomfield CD; Croce CM
Cancer Res; 1994 Aug; 54(16):4277-80. PubMed ID: 8044771
[TBL] [Abstract][Full Text] [Related]
20. [Lipoprotein lipase deficiencies].
Etienne J; Brault D
Ann Biol Clin (Paris); 1992; 50(5):299-309. PubMed ID: 1485686
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
