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[Diagnosis of two neonates with galactosemia by using next generation sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Zhang Haiyan, Chen Dong, Liu Chen, Liu Xingfeng, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic basis of two neonates suspected for galactosemia. METHODS: Next generation sequencing(NGS) was used to screen the whole exome of the neonates. Suspected mutation was validated by PCR and Sanger sequencing. Potential impact of novel mutation was predicted by using PolyPhen-2, MutationTaste and SIFT software. RESULTS: Both neonates harbored compound heterozygous mutations of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to UTP-Hexose-1-Phosphate Uridylyltransferase

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Identifiers

PMID: 29653003
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.023

Genes

GALT

Variants

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