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[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].

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

Hu Shuang, Mei Shiyue, Bai Ying, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To analyze MUT gene variants among 20 pedigrees affected with isolated methylmalonic aciduria by Sanger sequencing. METHODS: Peripheral blood samples were collected from the 20 probands and their parents. Following DNA extraction, the coding regions of the MUT gene were subjected to PCR amplification and Sanger sequencing. For 9 pedigrees, chorionic villus sampling was performed for prenatal genetic...

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PMID: 30098236
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.002

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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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