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Article

[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2016

Pan Yu-Chun, Liu Yang, Wu Wei-Qing, Xie Jian-Sheng

Abstract excerpt

OBJECTIVE: To study gene mutations in four pedigrees with methymalonic aciduria, as well as the feasibility of prenatal diagnosis of methymalonic aciduria. METHODS: High-throughput sequencing was performed for related genes in the peripheral blood of children or parents who were diagnosed with methymalonic aciduria to identify the loci with mutations. Then amplification primers were designed for each locus, and...

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Identifiers

PMID: 27751223
PMCID: PMC7389556

Genes

MMACHC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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