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24 resultsUpdated October 25, 2026
1

The genetics of Wilson disease

Handbook of clinical neurology 142 (2017)

Irene J. Chang; Si Houn Hahn

2

The global prevalence of Wilson disease from next-generation sequencing data

Genetics in Medicine 21(5) (2018)

Jiali Gao; Simon Brackley; Jake Peter Mann

3

Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

International Journal of Molecular Sciences 25(4) (2024)

E. V. Ovchinnikova; Mikhail Maksimovich Garbuz; A. A. Ovchinnikova; Vadim Vladimirovich Kumeiko

4

Geographic distribution of ATP7B mutations in Wilson disease

Annals of Human Biology 43(1) (2015)

Amanda Gomes; George V. Dedoussis

5

The mutation spectrum and ethnic distribution of Wilson disease, a review

Molecular Genetics and Metabolism Reports 38 (2023)

Zahra Beyzaei; Arman Mehrzadeh; Niko Hashemi; Bita Geramizadeh

6

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

Journal of Medical Case Reports 12(1) (2018)

Omid Daneshjoo; Masoud Garshasbi

8

Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype–Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson’s Disease

Biomedicines 12(12) (2024)

Mikhail Maksimovich Garbuz; Е. В. Овчинникова; Anna Ovchinnikova; Valeriya Vinokurova; Yulya Aristarkhova; Olga Kuziakova; Mariya Mashurova; Vadim Vladimirovich Kumeiko

9

Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance

World Journal of Gastroenterology 23(36) (2017)

Kassem A. Barada; Aline K. El Haddad; Meghri Katerji; Mustapha Jomaa; Julnar A. Usta

10

Gene mutations in Wilson disease in Egyptian children: Report on two novel mutations

Arab Journal of Gastroenterology 15(3-4) (2014)

Fatma El‐Mougy; Sahar Abd El-Atty Sharaf; Marwa M. Elsharkawy; Iman Atef Mandour; Riham A. El-Essawy; Abeer M. Nour El-Din; Heba M. Helmy; Dina H. Soliman; Laila Selim; Heba M. Sharafeldin; Engy Adel Mogahed; Hanaa Mostafa El-Karaksy

11

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

Hepatitis Monthly 13(5) (2013)

Hassan Dastsooz; Mohammad Hadi Imanieh; Seyed Mohsen Dehghani; Mahmood Haghighat; Maryam Moini; Majid Fardaei

12

Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review

Biochemical Genetics 63(2) (2025)

Halima Benzine; Saida Lhousni; Maria Rkain; Meryem Ouarzane; Redouane Boulouiz; Mohammed Bellaoui; Majida Charif

13

Presence of the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease

Revista de Gastroenterología de México (English Edition) 84(2) (2018)

Yulia Clark; Caridad Ruenes-Domech; E.F. García-Bacallao; Hilda Roblejo Balbuena; L. Feoktistova; I. Clark-Feoktistova; O. Jay-Herrera; Teresa Collazo-Mesa

14

Genetic screening of ATP7B gene in Iranian Wilson disease patients: a diverse landscape of pathogenic variants

Egyptian Journal of Medical Human Genetics 26(1) (2025)

Seyyed-Saleh Hashemi; Seyed Ali Jafari; Aida Gholoobi; Tayebeh Hamzehloei

15

Polimorfismo p.L456V, presencia en pacientes cubanos con diagnóstico clínico presuntivo de la enfermedad de Wilson

Revista de Gastroenterología de México 84(2) (2018)

Yulia Clark; Caridad Ruenes-Domech; E.F. García-Bacallao; Hilda Roblejo Balbuena; L. Feoktistova; I. Clark-Feoktistova; O. Jay-Herrera; Teresa Collazo-Mesa

16

Common Polymorphisms of ATP7B Gene as a Good Marker in Linkage Analysis in Wilson Disease Patients from Southern Iran

Journal of Advanced Medical Sciences and Applied Technologies 1(1) (2015)

Farzane Arianfar; Hassan Dastsooz; Nazanin Vahedi; Zeinab Fadaei; Mohammad Hadi Imanieh; Seyed Mohsen Dehghani; Mahmood Haghighat; Maryam Moini; Majid Fardaei

17

MUTATIONAL ANALYSIS OF EXON 10 AND EXON 13 OF ATP7B GENE IN PATIENTS WITH WILSON’S DISEASE.

International Journal of Advanced Research 4(10) (2016)

Haidar Ahmed Shamran; AhdafA. Jameel; Subah J. Hamza

18

Novel mutations in ATP7B gene of Wilson's disease in Iranian patients

Research in Molecular Medicine 1(1) (2013)

Iradj Maleki; Mohammad Reza Zali; Hossein Najmabadi