Literature DB >> 2877438

Pst I RFLP close to the LDL receptor gene.

H Funke, J Klug, P Frossard, R Coleman, G Assmann.   

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Year:  1986        PMID： 2877438      PMCID： PMC311810          DOI： 10.1093/nar/14.19.7820

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


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  2 in total

1.  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.  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
  2 in total
  12 in total

Review 1.  The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia.

Authors:  S Humphries; R Taylor; M Jeenah; M Seed
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

2.  TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia.

Authors:  K Yamakawa; T Okafuji; Y Iwamura; K Yuzawa; J Satoh; N Hattori; Y Yamanouchi; H Yanagi; K Kawai; S Tsuchiya
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

3.  Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.

Authors:  R Taylor; M Jeenah; M Seed; S Humphries
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

4.  Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

Authors:  H H Hobbs; E Leitersdorf; J L Goldstein; M S Brown; D W Russell
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

5.  Multiple mutations underlying familial hypercholesterolemia in the South African population.

Authors:  H E Henderson; M J Kotze; G M Berger
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

6.  AvaII polymorphism in the human LDL receptor gene.

Authors:  H H Hobbs; V Esser; D W Russell
Journal:  Nucleic Acids Res       Date:  1987-01-12       Impact factor: 16.971

7.  Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus.

Authors:  M J Kotze; E Langenhoven; A E Retief; H C Seftel; H E Henderson; H F Weich
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

8.  Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia.

Authors:  H Schuster; B Stiefenhofer; G Wolfram; C Keller; S Humphries; A Huber; N Zöllner
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

9.  Polymorphic DNA haplotypes at the LDL receptor locus.

Authors:  E Leitersdorf; A Chakravarti; H H Hobbs
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

10.  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
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