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Results: 1 to 20 of 345

Similar articles for PubMed (Select 18355452)

1.

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

Jelassi A, Najah M, Jguirim I, Maatouk F, Lestavel S, Laroussi OS, Rouis M, Boileau C, Rabès JP, Varret M, Slimane MN.

Clin Chim Acta. 2008 Jun;392(1-2):25-9. doi: 10.1016/j.cca.2008.02.019. Epub 2008 Mar 4.

PMID:
18355452
2.

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.

J Formos Med Assoc. 2007 Oct;106(10):799-807.

PMID:
17964958
3.

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

Chater R, Aït Chihab K, Rabès JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.

Clin Chim Acta. 2006 Nov;373(1-2):62-9. Epub 2006 May 16.

PMID:
16806138
4.

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.

Kulseth MA, Berge KE, Bogsrud MP, Leren TP.

J Hum Genet. 2010 Oct;55(10):676-80. doi: 10.1038/jhg.2010.87. Epub 2010 Aug 12.

PMID:
20703241
5.

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.

Cefalù AB, Barraco G, Noto D, Valenti V, Barbagallo CM, Elisir GD, Cuniberti LA, Werba JP, Libra M, Costa S, Gianguzza F, Notarbartolo A, Travali S, Averna MR.

Int J Mol Med. 2006 Mar;17(3):539-46.

PMID:
16465405
7.

Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.

Charng MJ, Chiou KR, Chang HM, Cheng HM, Ye ZX, Lin SJ.

Eur J Clin Invest. 2006 Dec;36(12):866-74.

PMID:
17087781
8.
9.

[Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].

Lin J, Wang LY, Liu S, Pan XD, Du LP, Shi FR, Qin YW, Zhao Q, Guo HY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):14-8. Chinese.

PMID:
14767901
10.
11.

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.

Wang L, Lin J, Liu S, Cao S, Liu J, Yong Q, Yang Y, Wu B, Pan X, Du L, Wu C, Qin Y, Chen B.

Nutr Metab Cardiovasc Dis. 2009 Jul;19(6):391-400. doi: 10.1016/j.numecd.2008.07.011. Epub 2008 Dec 13.

PMID:
19073363
12.

[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. Chinese.

13.

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.

Xie L, Gong QH, Xie ZG, Liang ZM, Hu ZM, Xia K, Xia JH, Yang YF.

Chin Med J (Engl). 2007 Oct 5;120(19):1694-9.

PMID:
17935672
14.

Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia.

Neff D, Ruschitzka F, Hersberger M, Enseleit F, Hürlimann D, Noll G, Lüscher T, Hänseler E.

Clin Chem Lab Med. 2003 Mar;41(3):266-71.

PMID:
12705331
16.

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

Lelli N, Garuti R, Ghisellini M, Tiozzo R, Rolleri M, Aimale V, Ginocchio E, Naselli A, Bertolini S, Calandra S.

J Lipid Res. 1995 Jun;36(6):1315-24.

17.

A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family.

Lin J, Wang LY, Liu S, Wang XM, Yong Q, Yang Y, DU LP, Pan XD, Wang X, Jiang ZS.

Chin Med J (Engl). 2010 May 5;123(9):1133-8.

PMID:
20529551
19.

Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

Chiou KR, Charng MJ.

Am J Cardiol. 2010 Jun 15;105(12):1752-8. doi: 10.1016/j.amjcard.2010.01.356. Epub 2010 May 4.

PMID:
20538126
20.

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.

Real JT, Chaves FJ, Ejarque I, García-García AB, Valldecabres C, Ascaso JF, Armengod ME, Carmena R.

Eur J Hum Genet. 2003 Dec;11(12):959-65.

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