2020•PubMedOpen access

[Phenotype and genotype analysis of 55 children patients with Wilson's disease].

Xiaoying Zhou, Hanjun Yin, C L Wang, Zhi Liu, Bixia Zheng, Yu Jin

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Abstract

gene, it is suggested to further use MLPA method to detect deletion mutations of exons.

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What this paper is about

gene, it is suggested to further use MLPA method to detect deletion mutations of exons.

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OpenAlex reports 2 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

gene, it is suggested to further use MLPA method to detect deletion mutations of exons.

Key concepts: Multiplex ligation-dependent probe amplification, Exon, Missense mutation, Compound heterozygosity, Genetics, Allele, Genotype, Frameshift mutation

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