Literature DB >> 8664911

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.

L G Jensen1, H K Jensen, H Nissen, K Kristiansen, O Faergeman, L Bolund, N Gregersen.   

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Year:  1996        PMID： 8664911     DOI： 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 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

2.  New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.

Authors:  H Francová; M Trbusek; P Zapletalová; V Kuhrová
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  2 in total

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