Literature DB >> 8100212

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.

B Saint-Jore1, N Loux, C Junien, C Boileau.   

Abstract

We identified by polymerase chain reaction/single-strand conformation polymorphism analysis two unreported polymorphisms in the low density lipoprotein receptor gene, located in exons 11 and 15. The exon 15 sequence variation can also be readily detected since it abolishes an MspI site.

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Year:  1993        PMID： 8100212     DOI： 10.1007/bf00217783

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


  6 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.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

3.  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

4.  Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

Authors:  O Attree; D Vidaud; M Vidaud; S Amselem; J M Lavergne; M Goossens
Journal:  Genomics       Date:  1989-04       Impact factor: 5.736

5.  Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.

Authors:  N Loux; P Benlian; D Pastier; C Boileau; J P Cambou; L Monnier; C Percheron; C Junien
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

6.  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
  6 in total
  2 in total

1.  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

2.  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
  2 in total

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