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Journal Abstract Search

131 related items for PubMed ID: 9852677

  • 1. Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
    Hirayama T, Yamaki E, Hata A, Tsuji M, Hashimoto K, Yamamoto M, Emi M.
    J Hum Genet; 1998; 43(4):250-4. PubMed ID: 9852677
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  • 3. Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.
    Hattori H, Hirayama T, Nobe Y, Nagano M, Kujiraoka T, Egashira T, Ishii J, Tsuji M, Emi M.
    J Hum Genet; 2002; 47(2):80-7. PubMed ID: 11916007
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  • 10. 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; 1(4):325-32. PubMed ID: 1301940
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  • 15. Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.
    Assouline L, Leitersdorf E, Lambert M, Reshef A, Feoli-Fonseca JC, Levy E.
    Hum Mutat; 1997; 9(6):555-62. PubMed ID: 9195230
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  • 16. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
    Cheng XH, Zheng F, Zhou X, Xiong CL, Ding J, Chen YM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
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  • 20. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J, Huff E, Janecka L, Hegele RA.
    Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627
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