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Journal Abstract Search
332 related items for PubMed ID: 9195230
1. 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 [Abstract] [Full Text] [Related]
2. 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 [Abstract] [Full Text] [Related]
3. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population. Assouline L, Levy E, Feoli-Fonseca JC, Godbout C, Lambert M. Pediatrics; 1995 Aug; 96(2 Pt 1):239-46. PubMed ID: 7630677 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
5. 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 Oct 25; 1(4):325-32. PubMed ID: 1301940 [Abstract] [Full Text] [Related]
6. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Jensen HK. Dan Med Bull; 2002 Nov 25; 49(4):318-45. PubMed ID: 12553167 [Abstract] [Full Text] [Related]
7. 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 25; 18(4):359. PubMed ID: 11668627 [Abstract] [Full Text] [Related]
8. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online. Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M. Hum Mutat; 1998 Oct 25; 11(5):413. PubMed ID: 10206683 [Abstract] [Full Text] [Related]
9. 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 Oct 25; 4(4):276-80. PubMed ID: 7866407 [Abstract] [Full Text] [Related]
10. 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 25; 28(1):7-15. PubMed ID: 17694954 [Abstract] [Full Text] [Related]
11. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations. Callis M, Jansen S, Thiart R, de Villiers JN, Raal FJ, Kotze MJ. Mol Cell Probes; 1998 Jun 25; 12(3):149-52. PubMed ID: 9664576 [Abstract] [Full Text] [Related]
12. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients]. Guan X, Li M, Fan L, Chen Q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr 25; 20(2):138-42. PubMed ID: 12673584 [Abstract] [Full Text] [Related]
13. 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 Apr 25; 4(2):102-13. PubMed ID: 7981713 [Abstract] [Full Text] [Related]
14. 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 25; 56(5):636-40. PubMed ID: 17445538 [Abstract] [Full Text] [Related]
15. 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 25; 17(3):539-46. PubMed ID: 16465405 [Abstract] [Full Text] [Related]
16. Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population. Arráiz N, Bermúdez V, Rondon N, Reyes F, Borjas L, Solís E, Mujica E, Prieto C, Reyna N, Velasco M. Am J Ther; 2010 Mar 25; 17(3):325-9. PubMed ID: 20019594 [Abstract] [Full Text] [Related]
17. [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; 25(1):55-8. PubMed ID: 18247305 [Abstract] [Full Text] [Related]
18. [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 25; 21(1):14-8. PubMed ID: 14767901 [Abstract] [Full Text] [Related]
19. Heterozygosity for the missense mutation Ala370-->Thr in exon 8 of the low density lipoprotein receptor gene does not cause hypercholesterolemia. Weiss N, Binder G, Keller C. Eur J Med Res; 1998 Feb 21; 3(1-2):20-4. PubMed ID: 9512963 [Abstract] [Full Text] [Related]
20. [Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg]. Tatishcheva IuA, Mandel'shtam MIu, Golubkov VI, Lipovetskiĭ BM, Gaĭtskhoki VS. Genetika; 2001 Sep 21; 37(9):1290-5. PubMed ID: 11642133 [Abstract] [Full Text] [Related] Page: [Next] [New Search]