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P417 WILSON DISEASE ATP7B GENE MUTATIONS IN EGYPTIAN CHILDREN: REPORT OF TWO NOVEL MUTATIONS

โœ Scribed by El-Mougy, F.; Sharaf, S.; Elsharkawy, M.; Mandour, I.; Elessawy, R.; Eldin, A.; Helmy, H.; Soliman, D.; Hussein, L.; Sharafeldin, H.; Adel, E.; El-Karaksy, H.


Book ID
123596981
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
59 KB
Volume
60
Category
Article
ISSN
0168-8278

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Wilson disease: Novel mutations in the A
โœ Marta M. Deguti; Janine Genschel; Eduardo L.R. Cancado; Egberto R. Barbosa; Bett ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 225 KB ๐Ÿ‘ 1 views

Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase, resulting in copper overload in various tissues and cells. The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subj