Homozygosity for a gross partial gene deletion of the C‐terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations

Abstract excerpt

We identified a partial gene deletion of ATP7B in a patient with Wilson disease with hepatic onset. The deletion covered exon 20 including major parts of the flanking introns. The breakpoints were identified and the size of the deletion determined to be 2144 bp. The deletion is predicted to lead to a mutated protein product containing 45 aberrant amino acids after transmembrane domain 7, and lacking the...

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