Literature DB >> 16532467

Genotype-phenotype correlation of the Wilson disease ATP7B gene.

Lorenzo Leggio, Giovanni Addolorato, Georgios Loudianos, Ludovico Abenavoli, Giovanni Gasbarrini.   

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Year:  2006        PMID： 16532467     DOI： 10.1002/ajmg.a.31191

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

Review 1.  The genetics of Wilson disease.

Authors:  Irene J Chang; Si Houn Hahn
Journal:  Handb Clin Neurol       Date:  2017

2.  Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.

Authors:  Lorenzo Leggio; Noemi Malandrino; Georgios Loudianos; Ludovico Abenavoli; Maria Barbara Lepori; Esmeralda Capristo; Stefano De Virgiliis; Giovanni Gasbarrini; Giovanni Addolorato
Journal:  Dig Dis Sci       Date:  2007-04-05       Impact factor: 3.199

Review 3.  Disorders of metal metabolism.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-12-18

4.  Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.

Authors:  Shubhrajit Roy; Courtney J McCann; Martina Ralle; Kunal Ray; Jharna Ray; Svetlana Lutsenko; Samuel Jayakanthan
Journal:  Sci Rep       Date:  2020-08-10       Impact factor: 4.379
  4 in total

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