Literature DB >> 15571607

The other mutation is found: follow-up of an exceptional family with Wilson disease.

Gabor Firneisz, Laszlo Szonyi, Peter Ferenci, Claudia Willheim, Andrea Horvath, Aniko Folhoffer, Zsolt Tulassay, Ferenc Szalay.   

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Year:  2004        PMID： 15571607     DOI： 10.1111/j.1572-0241.2004.41389_8.x

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN： 0002-9270            Impact factor:   10.864


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  3 in total

1.  A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.

Authors:  Lorenzo Leggio; Giovanni Addolorato; Georgios Loudianos; Ludovico Abenavoli; Maria Barbara Lepori; Fabio Maria Vecchio; Gian Ludovico Rapaccini; Stefano De Virgiliis; Giovanni Gasbarrini
Journal:  Dig Dis Sci       Date:  2006-01       Impact factor: 3.199

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.  Currently Clinical Views on Genetics of Wilson's Disease.

Authors:  Chen Chen; Bo Shen; Jia-Jia Xiao; Rong Wu; Sarah Jane Duff Canning; Xiao-Ping Wang
Journal:  Chin Med J (Engl)       Date:  2015-07-05       Impact factor: 2.628
  3 in total

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