221 related articles for article (PubMed ID: 10924730)
1. FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia.
Nauck MS; Scharnagl H; Nissen H; Schürmann C; Matern D; Nauck MA; Wieland H; März W
Atherosclerosis; 2000 Aug; 151(2):525-34. PubMed ID: 10924730
[TBL] [Abstract][Full Text] [Related]
2. Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
Soutar AK; Knight BL; Patel DD
Proc Natl Acad Sci U S A; 1989 Jun; 86(11):4166-70. PubMed ID: 2726768
[TBL] [Abstract][Full Text] [Related]
3. [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; 56(5):566-72. PubMed ID: 15497035
[TBL] [Abstract][Full Text] [Related]
4. 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; 46(3):152-4. PubMed ID: 11310584
[TBL] [Abstract][Full Text] [Related]
5. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
6. 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; 154(3):557-65. PubMed ID: 11257256
[TBL] [Abstract][Full Text] [Related]
7. Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family.
Levy E; Minnich A; Cacan SL; Thibault L; Giroux LM; Davignon J; Lambert M
Biochem Mol Med; 1997 Feb; 60(1):59-69. PubMed ID: 9066982
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
Leitersdorf E; Hobbs HH; Fourie AM; Jacobs M; van der Westhuyzen DR; Coetzee GA
Proc Natl Acad Sci U S A; 1988 Nov; 85(21):7912-6. PubMed ID: 3263645
[TBL] [Abstract][Full Text] [Related]
10. Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.
Webb JC; Sun XM; McCarthy SN; Neuwirth C; Thompson GR; Knight BL; Soutar AK
J Lipid Res; 1996 Feb; 37(2):368-81. PubMed ID: 9026534
[TBL] [Abstract][Full Text] [Related]
11. Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
Jensen HK; Jensen TG; Jensen LG; Hansen PS; Kjeldsen M; Andresen BS; Nielsen V; Meinertz H; Hansen AB; Bolund L
Hum Mutat; 1994; 4(2):102-13. PubMed ID: 7981713
[TBL] [Abstract][Full Text] [Related]
12. A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
Leitersdorf E; Reshef A; Meiner V; Dann EJ; Beigel Y; van Roggen FG; van der Westhuyzen DR; Coetzee GA
Hum Genet; 1993 Mar; 91(2):141-7. PubMed ID: 8462973
[TBL] [Abstract][Full Text] [Related]
13. Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function.
Myant NB; Gallagher JJ; Knight BL; McCarthy SN; Frostegård J; Nilsson J; Hamsten A; Talmud P; Humphries SE
Arterioscler Thromb; 1991; 11(3):691-703. PubMed ID: 1674216
[TBL] [Abstract][Full Text] [Related]
14. An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.
Lombardi P; Hoffer MJ; Top B; de Wit E; Gevers Leuven JA; Frants RR; Havekes LM
Atherosclerosis; 1993 Dec; 104(1-2):117-28. PubMed ID: 8141835
[TBL] [Abstract][Full Text] [Related]
15. A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
Miyake Y; Tajima S; Funahashi T; Yamamura T; Yamamoto A
Eur J Biochem; 1992 Nov; 210(1):1-7. PubMed ID: 1446662
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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; 10(4):944-952.e1. PubMed ID: 27578127
[TBL] [Abstract][Full Text] [Related]
18. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
Azian M; Hapizah MN; Khalid BA; Khalid Y; Rosli A; Jamal R
Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
[TBL] [Abstract][Full Text] [Related]
19. Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.
Bertolini S; Cassanelli S; Garuti R; Ghisellini M; Simone ML; Rolleri M; Masturzo P; Calandra S
Arterioscler Thromb Vasc Biol; 1999 Feb; 19(2):408-18. PubMed ID: 9974426
[TBL] [Abstract][Full Text] [Related]
20. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
Al-Allaf FA; Alashwal A; Abduljaleel Z; Taher MM; Bouazzaoui A; Abalkhail H; Al-Allaf AF; Athar M
Acta Biochim Pol; 2017; 64(1):75-79. PubMed ID: 27878139
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
