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New novel mutation of the ATP7B gene in a family with Wilson disease

โœ Scribed by Jun-Young Lee; Young-Hyun Kim; Tae-Woo Kim; Sun-Young Oh; Dal-Sik Kim; Byoung-Soo Shin


Book ID
119304286
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
521 KB
Volume
313
Category
Article
ISSN
0022-510X

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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