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[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2021

Cui Yan, Zhang Yingxian, Fu Dongxia, Liu Xiaojing, Wei Haiyan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature. METHODS: Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing. Impact of potential variants was analyzed with bioinformatic software. RESULTS: The child was found to carry...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33974261
DOI: 10.3760/cma.j.cn511374-20200414-00267

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