Abstract
肝豆状核变性发病隐匿，临床表现多样，易被漏诊、误诊。现报道2例未成年女性肝豆状核变性患者，并对患者及其家系行ATP7B基因外显子测序，进行相关文献复习，以期进一步了解该罕见病的基因特点。.
Keywords:
ATP7B; Combined mutation; Genetic testing; Hepatolenticular degeneration.
MeSH terms
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Copper-Transporting ATPases / genetics
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DNA Mutational Analysis
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Hepatolenticular Degeneration* / genetics
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Humans
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Mutation
Substances
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Copper-Transporting ATPases