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Article

Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2021

Ma Shujun, Zhang Zhongxin, Fu Yanyan, Zhang Mingxia, Niu Yuna, Li Ruiguang, Guo Qinghe, He Zhian, Zhao Qingwei, Song Zhishan, Wang Xia, Sun Ruili

Abstract excerpt

AIMS: To investigate a family with clinical symptoms of maple syrup urine disease and reveal a genetic cause underlying this disease. METHODS: Targeted capture sequencing was used to screen for mutations in the patient. Real-Time PCR was carried out to perform exon 1, 5, 9 CNV analysis of samples from the patient's father, mother and sister. Whole genome sequencing was performed to map the approximate location of...

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PMID: 33607070
DOI: 10.1016/j.cca.2021.01.023

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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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