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Journal Abstract Search

293 related items for PubMed ID: 7981713

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  • 4. [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. PubMed ID: 15497035
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  • 7. Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.
    Motti C, Bertolini S, Rampa P, Trovatello G, Liberatoscioli L, Calandra S, Federici G, Cortese C.
    Hum Mutat; 1998 Oct 25; 12(3):290. PubMed ID: 10660340
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  • 8. 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 05; 120(19):1694-9. PubMed ID: 17935672
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  • 9. 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 05; 28(1):7-15. PubMed ID: 17694954
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  • 11. Detection of a known mutation M412T in the LDL receptor in a Chinese Thai FH family.
    Pongrapeeporn KU, Nuinoon M, Thepsuriyanont P, Kasemsuk B, Charoensuk P, Chantawee R, Wongmanee U, Nuchpramool W.
    Clin Chim Acta; 2006 Mar 05; 365(1-2):211-6. PubMed ID: 16406299
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  • 13. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
    Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C.
    Hum Mutat; 1992 Mar 05; 1(4):325-32. PubMed ID: 1301940
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  • 15. [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 05; 21(1):14-8. PubMed ID: 14767901
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  • 16. A LDL receptor gene homozygous mutation: PCR amplification, direct genomic sequencing, associated haplotype, rapid screening for frequency.
    Benlian P, Amselem S, Loux N, Pastier D, Giraud G, de Gennes JL, Turpin G, Monnier L, Rieu D, Douste-Blazy P.
    Ann Genet; 1990 Feb 05; 33(2):65-9. PubMed ID: 1978630
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  • 17. FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.
    Cavanaugh JA, Easteal S, Simons LA, Thomas DW, Serjeantson SW.
    Hum Mutat; 1994 Feb 05; 4(4):276-80. PubMed ID: 7866407
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  • 18. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
    Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion MA, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M, Spanish Group of FH.
    Hum Mutat; 2002 Dec 05; 20(6):477. PubMed ID: 12442279
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  • 19. A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.
    Hopkins PN, Wu LL, Stephenson SH, Xin Y, Katsumata H, Nobe Y, Nakajima T, Hirayama T, Emi M, Williams RR.
    J Hum Genet; 1999 Dec 05; 44(6):364-7. PubMed ID: 10570905
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  • 20. Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
    Chen K, Mu YM, Wang BA, Guo QH, Lu ZH, Dou JT, Lu JM.
    Metabolism; 2007 May 05; 56(5):636-40. PubMed ID: 17445538
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