Literature DB >> 1601429

Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene.

L Warnich1, M J Kotze, E Langenhoven, A E Retief.   

Abstract

DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.

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Year:  1992        PMID： 1601429     DOI： 10.1007/bf00220563

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

Review 1.  The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

Authors:  H H Hobbs; D W Russell; M S Brown; J L Goldstein
Journal:  Annu Rev Genet       Date:  1990       Impact factor: 16.830

2.  Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).

Authors:  C R Newton; A Graham; L E Heptinstall; S J Powell; C Summers; N Kalsheker; J C Smith; A F Markham
Journal:  Nucleic Acids Res       Date:  1989-04-11       Impact factor: 16.971

3.  A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.

Authors:  R Spiegelberg; C Aulehla-Scholz; H Erlich; J Horst
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

4.  The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA.

Authors:  T Yamamoto; C G Davis; M S Brown; W J Schneider; M L Casey; J L Goldstein; D W Russell
Journal:  Cell       Date:  1984-11       Impact factor: 41.582
  4 in total
  6 in total

1.  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

2.  Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop.

Authors:  T P Leren; K Solberg; O K Rødningen; O Røsby; S Tonstad; L Ose; K Berg
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

3.  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

4.  An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.

Authors:  U Ekström; M Abrahamson; T Sveger; P Lombardi; P Nilsson-Ehle
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

5.  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

6.  Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Authors:  Tatiana Yu Komarova; Victoria A Korneva; Tatiana Yu Kuznetsova; Alexandra S Golovina; Vadim B Vasilyev; Michail Yu Mandelshtam
Journal:  BMC Med Genet       Date:  2013-12-27       Impact factor: 2.103
  6 in total

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