Literature DB >> 7833932

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.

J Simard1, S Moorjani, M C Vohl, P Couture, A L Torres, C Gagné, J P Després, F Labrie, P J Lupien.   

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Year:  1994        PMID： 7833932     DOI： 10.1093/hmg/3.9.1689

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

1.  Software and database for the analysis of mutations in the human LDL receptor gene.

Authors:  M Varret; J P Rabès; G Collod-Béroud; C Junien; C Boileau; C Béroud
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

Review 2.  Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease.

Authors:  George Yuan; Jian Wang; Robert A Hegele
Journal:  CMAJ       Date:  2006-04-11       Impact factor: 8.262

3.  The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels.

Authors:  Jean-Philippe Drouin-Chartier; Jean-Charles Hogue; André J Tremblay; Jean Bergeron; Benoît Lamarche; Patrick Couture
Journal:  Lipids Health Dis       Date:  2017-06-15       Impact factor: 3.876

Review 4.  Familial Hypercholesterolemia and the Founder Effect Among Franco-Americans: A Brief History and Call to Action.

Authors:  Reed Mszar; Sara Buscher; Heidi L Taylor; Mary T Rice-DeFosse; Dervilla McCann
Journal:  CJC Open       Date:  2020-01-25
  4 in total

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