Literature DB >> 2881253

A RFLP associated with the low-density lipoprotein receptor gene (LDLR).

M J Kotze, E Langenhoven, E Dietzsch, A E Retief.   

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Year:  1987        PMID： 2881253      PMCID： PMC340429          DOI： 10.1093/nar/15.1.376

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


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  2 in total

1.  Report of the Committee on the Genetic Constitution of Chromosomes 17, 18 and 19.

Authors:  S Naylor; J M Lalouel; D J Shaw
Journal:  Cytogenet Cell Genet       Date:  1985

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
  21 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.  A study of familial hypercholesterolaemia in Iceland using RFLPs.

Authors:  R Taylor; J Bryant; V Gudnason; G Sigurdsson; S Humphries
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

5.  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

6.  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

7.  An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

Authors:  M J Kotze; L Warnich; E Langenhoven; L du Plessis; A E Retief
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

8.  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

9.  Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

Authors:  A V Peeters; L F Van Gaal; L Theart; E Langenhoven; M J Kotze
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

10.  Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations.

Authors:  A R Miserez; H Schuster; N Chiodetti; U Keller
Journal:  Am J Hum Genet       Date:  1993-04       Impact factor: 11.025
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