Literature DB >> 16416207

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

Lorenzo Leggio1, Giovanni Addolorato, Georgios Loudianos, Ludovico Abenavoli, Maria Barbara Lepori, Fabio Maria Vecchio, Gian Ludovico Rapaccini, Stefano De Virgiliis, Giovanni Gasbarrini.   

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Year:  2006        PMID： 16416207     DOI： 10.1007/s10620-006-3080-8

Source DB:  PubMed          Journal:  Dig Dis Sci        ISSN： 0163-2116            Impact factor:   3.199


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  32 in total

1.  High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.

Authors:  L García-Villarreal; S Daniels; S H Shaw; D Cotton; M Galvin; J Geskes; P Bauer; A Sierra-Hernández; A Buckler; A Tugores
Journal:  Hepatology       Date:  2000-12       Impact factor: 17.425

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

Authors:  Gabor Firneisz; Laszlo Szonyi; Peter Ferenci; Claudia Willheim; Andrea Horvath; Aniko Folhoffer; Zsolt Tulassay; Ferenc Szalay
Journal:  Am J Gastroenterol       Date:  2004-12       Impact factor: 10.864

3.  Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Authors:  A B Shah; I Chernov; H T Zhang; B M Ross; K Das; S Lutsenko; E Parano; L Pavone; O Evgrafov; I A Ivanova-Smolenskaya; G Annerén; K Westermark; F H Urrutia; G K Penchaszadeh; I Sternlieb; I H Scheinberg; T C Gilliam; K Petrukhin
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

4.  Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

Authors:  G Loudianos; V Dessi; M Lovicu; A Angius; B Altuntas; R Giacchino; M Marazzi; M Marcellini; M R Sartorelli; G C Sturniolo; N Kocak; A Yuce; N Akar; M Pirastu; A Cao
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

5.  High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

Authors:  L M Chuang; H P Wu; M H Jang; T R Wang; W C Sue; B J Lin; D W Cox; T Y Tai
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

6.  Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation.

Authors:  R Palsson; J G Jonasson; M Kristjansson; A Bodvarsson; R D Goldin; D W Cox; S Olafsson
Journal:  Eur J Gastroenterol Hepatol       Date:  2001-04       Impact factor: 2.566

Review 7.  Wilson's disease: clinical, genetic and pharmacological findings.

Authors:  L Leggio; G Addolorato; L Abenavoli; G Gasbarrini
Journal:  Int J Immunopathol Pharmacol       Date:  2005 Jan-Mar       Impact factor: 3.219

8.  Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.

Authors:  Y Yamaguchi; M E Heiny; J D Gitlin
Journal:  Biochem Biophys Res Commun       Date:  1993-11-30       Impact factor: 3.575

9.  Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Authors:  G Loudianos; V Dessi; M Lovicu; A Angius; A Figus; F Lilliu; S De Virgiliis; A M Nurchi; A Deplano; P Moi; M Pirastu; A Cao
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

10.  Haplotype and mutation analysis in Greek patients with Wilson disease.

Authors:  G Loudianos; V Dessì; M Lovicu; A Angius; E Kanavakis; M Tzetis; C Kattamis; N Manolaki; G Vassiliki; T Karpathios; A Cao; M Pirastu
Journal:  Eur J Hum Genet       Date:  1998 Sep-Oct       Impact factor: 4.246
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  2 in total

1.  Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.

Authors:  Xing-Nong Ye; Li-Ping Mao; Yin-Jun Lou; Hong-Yan Tong
Journal:  Int J Clin Exp Med       Date:  2015-03-15

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
  2 in total

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