Literature DB >> 2900502

Human LDL receptor gene: HincII polymorphism detected by gene amplification.

E Leitersdorf1, H H Hobbs.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 2900502      PMCID： PMC338395          DOI： 10.1093/nar/16.14.7215

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


× No keyword cloud information.
  2 in total

1.  Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes.

Authors:  R K Saiki; T L Bugawan; G T Horn; K B Mullis; H A Erlich
Journal:  Nature       Date:  1986 Nov 13-19       Impact factor: 49.962

2.  Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.

Authors:  V Lindgren; K L Luskey; D W Russell; U Francke
Journal:  Proc Natl Acad Sci U S A       Date:  1985-12       Impact factor: 11.205
  2 in total
  10 in total

1.  Testing the feasibility of DNA typing for human identification by PCR and an oligonucleotide ligation assay.

Authors:  C Delahunty; W Ankener; Q Deng; J Eng; D A Nickerson
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing.

Authors:  A C Syvänen; A Sajantila; M Lukka
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

3.  Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.

Authors:  D Norman; X M Sun; M Bourbon; B L Knight; R P Naoumova; A K Soutar
Journal:  J Clin Invest       Date:  1999-09       Impact factor: 14.808

4.  RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects.

Authors:  S Bertolini; D A Coviello; P Masturzo; E Zucchetto; N Elicio; R Balestreri; G Orecchini; S Calandra; S Humphries
Journal:  Eur J Epidemiol       Date:  1992-05       Impact factor: 8.082

5.  Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.

Authors:  H Schuster; P Ostwald; P Keller; G Wolfram; C Keller
Journal:  Clin Investig       Date:  1993-02

6.  Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis.

Authors:  K Yamakawa-Kobayashi; T Kobayashi; T Obara; H Hamaguchi
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

7.  Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.

Authors:  H Schuster; H J Fischer; C Keller; G Wolfram; N Zöllner
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

8.  Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19.

Authors:  P M Nishina; J P Johnson; J K Naggert; R M Krauss
Journal:  Proc Natl Acad Sci U S A       Date:  1992-01-15       Impact factor: 11.205

9.  A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

Authors:  Haiyan Zhu; H Michael Tucker; Karrie E Grear; James F Simpson; Alisa K Manning; L Adrienne Cupples; Steven Estus
Journal:  Hum Mol Genet       Date:  2007-05-21       Impact factor: 6.150

10.  Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.

Authors:  C R Pullinger; L K Hennessy; J E Chatterton; W Liu; J A Love; C M Mendel; P H Frost; M J Malloy; V N Schumaker; J P Kane
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.