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Article

[Identification of a homozygous ASS1 mutation in a child with citrullinemia type Ⅰ with high-melting curve method].

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

Sun Jingjing, Shen Yunlin, Yan Chongbing, Gong Xiaohui

Abstract excerpt

OBJECTIVE: To carry out rapid genetic diagnosis for a child affected with citrullinemia type Ⅰ. METHODS: Peripheral venous blood samples were obtained from the two-day-old child and his parents as well as 100 healthy controls. Serum ammonia and citrulline was determined by biochemical test and tandem mass spectrometry. Sixteen pairs of primers were designed for high-resolution melting (HRM) analysis of all exons...

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Identifiers

PMID: 29896748
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.028

Genes

ASS1

Variants

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