Literature DB >> 1871000

A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).

A K Soutar1.   

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Year:  1991        PMID： 1871000      PMCID： PMC328608          DOI： 10.1093/nar/19.15.4314

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


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  4 in total

1.  Common low-density lipoprotein receptor mutations in the French Canadian population.

Authors:  E Leitersdorf; E J Tobin; J Davignon; H H Hobbs
Journal:  J Clin Invest       Date:  1990-04       Impact factor: 14.808

2.  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

3.  Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

Authors:  A K Soutar; B L Knight; D D Patel
Journal:  Proc Natl Acad Sci U S A       Date:  1989-06       Impact factor: 11.205

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
  4 in total

1.  European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.

Authors:  H Schuster; S Humphries
Journal:  Clin Investig       Date:  1994-11

2.  A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).

Authors:  S Bertolini; N Lelli; D A Coviello; M Ghisellini; P Masturzo; R Tiozzo; N Elicio; A Gaddi; S Calandra
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

3.  Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.

Authors:  E Pereira; R Ferreira; B Hermelin; G Thomas; C Bernard; V Bertrand; H Nassiff; D Mendez del Castillo; G Bereziat; P Benlian
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

4.  Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.

Authors:  S Humphries; L King-Underwood; V Gudnason; M Seed; S Delattre; V Clavey; J C Fruchart
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318
  4 in total

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