Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

Author:

Abdelghaffar Tawhida Y.,Elsayed Solaf M.,Elsobky Ezzat,Bochow Bettina,Büttner Janine,Schmidt Hartmut

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Al Jumah M, Majumdar R, Al Rajeh S, Awada A, Al Zaben A, Al Traif I, Al Jumah AR, Rehana ZA (2004) Clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations. Eur J Neurol 11:121–124

2. Danks DM (1989) Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited diseases, 6th edn. McGraw-Hill, New York, pp 1416–1422

3. Loudianos G, Dessi V, Lovicu M, Angius A, Altunatus B, Giacchino R, Marazzi M, Marcellini M, Sartorelli MR, Sturniolo GC, Kocak N, Yuce A, Akar N, Pirastu M, Cao A (1999) 19 Novel mutations descent with Wilson disease: identification of mutation analysis in patients of Mediterranean. J Med Genet 36:833–836

4. Machado A, Chien HF, Deguti MM, Cançado E, Azevedo RS, Scaff M, Barbosa ER (2006) Neurological manifestations in Wilson’s disease: report of 119 cases. Mov Disord 21:2192–2196

5. Majumdar R, Al Jumah M, Al Rajeh S, Fraser M, Al Zaben A, Awada A, Al Traif I, Paterson M (2000) A novel deletion mutation in the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease. J Neurol Sci 179:140–143

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