Molecular characterization of minor gene rearrangements in Korean patients with familial hypercholesterolemia.

被引：0
|
作者：
Kim, SH [1 ]
Kim, UK [1 ]
Chae, JJ [1 ]
Namkoong, Y [1 ]
Oh, MY [1 ]
Lee, CC [1 ]
机构：
[1] Seoul Natl Univ, Sch Biol Sci, Seoul, South Korea
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
2250
引用
收藏
页码：400 / 400
页数：1
相关论文
共 50 条
  • [1] The screening for small rearrangements and point mutations of the LDL receptor gene in the Korean patients with familial hypercholesterolemia.
    Chae, JJ
    Kim, SH
    Hong, SS
    Park, YB
    Lee, CC
    Namkoong, Y
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A409 - A409
  • [2] Novel and prevalent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
    Lee, ST
    Kim, JH
    Choi, HK
    Lee, H
    Park, HY
    Kim, JH
    Kim, JW
    Kim, HJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A474 - A474
  • [3] Characterization of novel mutations in familial hypercholesterolemia.
    Schmidt, H
    Stuhrmann, M
    Dörk, T
    Haas, R
    Tietge, U
    Ebhard, M
    Schmidtke, J
    Manns, M
    GASTROENTEROLOGY, 1998, 114 (04) : A1337 - A1337
  • [4] LARGE LDLR REARRANGEMENTS IN BULGARIAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA. FREQUENCY AND TWO NOVEL MUTATIONS
    Horvath, Anelia
    Kirov, Stefan
    Paskaleva, Iva
    Spassov, Lyubomir
    Ganev, Varban
    COMPTES RENDUS DE L ACADEMIE BULGARE DES SCIENCES, 2011, 64 (01): : 149 - 156
  • [5] Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
    Goldmann, Radan
    Tichy, Lukas
    Freiberger, Tomas
    Zapletalova, Petra
    Letocha, Ondrej
    Soska, Vladimir
    Fajkus, Jiri
    Fajkusova, Lenka
    BMC MEDICAL GENETICS, 2010, 11
  • [6] Genomic mapping of a fourth gene involved in familial hypercholesterolemia.
    Villéger, L
    Varret, M
    Rabes, JP
    Saint-Jore, B
    Cenarro, A
    Deviliers, M
    Krempf, M
    Kotze, MJ
    Kostner, GM
    Martinez, M
    Junien, C
    Boileau, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A450 - A450
  • [7] Advance in molecular diagnosis of familial hypercholesterolemia in the Czech population: Identification and characterization of large rearrangements in LDLR gene
    Kozak, L.
    Zapletalova, P.
    Goldmann, R.
    Letocha, O.
    Vyroubalova, L.
    Porupkova, J.
    Tichy, L.
    Freiberger, T.
    ATHEROSCLEROSIS SUPPLEMENTS, 2007, 8 (01) : 51 - 51
  • [8] Molecular characterization of familial hypercholesterolemia in Iranian patients
    Chaleshtori, M. Hashemzadeh
    Farrokhi, E.
    Shayesteh, F.
    Modarresi, M.
    Shirani, M.
    Dehkordi, F. Roghani
    Samani, K. Ghatreh
    Mobini, G. R.
    Banitalebi, M.
    Ashrafi, K.
    Shahrani, M.
    Parvin, N.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 : S76 - S76
  • [9] External in vivo imaging of gene transfer in the rabbit model of familial hypercholesterolemia.
    Schmidt, HHJ
    Cichon, G
    Buttner, C
    Dogar, M
    Gielow, P
    Boker, K
    Olbricht, C
    Strauss, M
    Hundeshagen, H
    Burchert, W
    Manns, MP
    GASTROENTEROLOGY, 1996, 110 (04) : A1316 - A1316
  • [10] Detection of mutation in exon 11 of the LDL receptor gene in a familial hypercholesterolemia.
    Choi, HC
    Chae, JJ
    Lee, CC
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 108 (04) : 664 - 664
12345