Literature DB >> 9090532

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.

N Mavroidis1, J Traeger-Synodinos, E Kanavakis, E Drogari, N Matsaniotis, S E Humphries, I N Day, C Kattamis.   

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Year:  1997        PMID： 9090532     DOI： 10.1002/(SICI)1098-1004(1997)9:3<274::AID-HUMU10>3.0.CO;2-#

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


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  4 in total

1.  LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Authors:  M Varret; J P Rabés; R Thiart; M J Kotze; H Baron; A Cenarro; O Descamps; M Ebhardt; J C Hondelijn; G M Kostner; Y Miyake; M Pocovi; H Schmidt; H Schuster; M Stuhrmann; T Yamamura; C Junien; C Béroud; C Boileau
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

2.  Genetic variation and atherosclerosis.

Authors:  Erik Biros; Mirko Karan; Jonathan Golledge
Journal:  Curr Genomics       Date:  2008-03       Impact factor: 2.236

3.  Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

Authors:  Vassil A Mihaylov; Anelia D Horvath; Alexey S Savov; Elina F Kurshelova; Ivanka D Paskaleva; Assen R Goudev; Ivaylo R Stoilov; Varban S Ganev
Journal:  J Hum Genet       Date:  2004-03-10       Impact factor: 3.172

4.  Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report.

Authors:  Ane Bayona; Francisco Arrieta; Carmen Rodríguez-Jiménez; Francisco Cerrato; Sonia Rodríguez-Nóvoa; Milagros Fernández-Lucas; Diego Gómez-Coronado; Pedro Mata
Journal:  Medicine (Baltimore)       Date:  2020-08-21       Impact factor: 1.817
  4 in total

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