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

Journal of human genetics - 1 Jan 2008

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

Abstract excerpt

The aim of this work was to study the mutations within ATP7B in Egyptian children with Wilson disease and to evaluate any potential correlation between genotype and phenotype in this cohort. The study consisted of 48 children with Wilson disease from 32 independent families. The 21 exons of the ATP7B gene were amplified in a thermal cycler. Direct sequencing of the amplified polymerase chain reaction (PCR)...

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PMID: 18483695
DOI: 10.1007/s10038-008-0298-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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