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Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Autor: Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)

Abstract Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect

Externí odkaz: https://doaj.org/article/f5d856e569f748b4a52d4369e08c8b3b

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Accurate Five-category Classification for Colorectal Cancer Using Gut Microbiome 16S rRNA Sequencing

Autor: Shu Zheng, Yanqi Huang, Qiutao Ding, Shiqing Ma, Jun Liu, Liying Zhang, Jiaqi Zhu, Weixian Zheng, Mingya Han, Hongbo Zhang

The association between the gut microbiome and the five stages of colorectal cancer (CRC) (healthy, polyposis, nonadvanced adenoma, advanced adenoma, and cancer) remains unclear. We performed 16S rRNA sequencing of the V3-V4 amplicon from 999 samples

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ebc33f5e9cb4cb0087defab5b4054160
https://doi.org/10.21203/rs.3.rs-763700/v1

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[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I]

Autor: Yiming, Lin, Mingya, Han, Zhenzhu, Zheng, Weihua, Lin, Ke, Yu, Qingliu, Fu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(1)

OBJECTIVE To detect potential mutations of GCDH gene in five patients with glutaric acidemia type I (GA-I). METHODS Genomic DNA was extracted from peripheral blood samples from the patients. The 11 exons and their flanking sequences of the GCDH gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3e8bf80bbb889aee9a7ea8ce4006d866
https://pubmed.ncbi.nlm.nih.gov/29419857

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Additional file 1: of Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Autor: Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

Table S1. Summary of targeted gene sequencing data in the proband. (DOC 29 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5170b12081e6f460193a3e98e10bad6a

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Additional file 2: of Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Autor: Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

Table S2. Shortlist of seven variants identified in MMA-related genes by targeted NGS. (DOC 35 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::657079dfb2f728bf15e0efa82edfd8c5

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