[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
Abstract
Xiaoying Zhou, Hanjun Yin, C L Wang, Zhi Liu, Bixia Zheng, Yu Jin
Abstract
gene, it is suggested to further use MLPA method to detect deletion mutations of exons.
OpenAlex reports 2 citations for this work. Citation counts describe recorded attention and do not establish research quality.
A contribution statement is not available in the OpenAlex record.
Method details are not available in the OpenAlex metadata.
Findings are not separately available in the OpenAlex metadata.
Limitations are not available in the OpenAlex metadata.
Application details are not available in the OpenAlex metadata.
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