Identification of gene mutations in six Chinese patients with maple syrup urine disease

Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing technology in the early diagnosis of MUSD. Methods:...

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Detalles Bibliográficos
Autores principales: Li, Lulu, Mao, Xinmei, Yang, Nan, Ji, Taoyun, Wang, Shunan, Ma, Yulan, Yang, Haihe, Sang, Yuting, Zhao, Jinqi, Gong, Lifei, Tang, Yue, Kong, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10001893/
https://www.ncbi.nlm.nih.gov/pubmed/36911408
http://dx.doi.org/10.3389/fgene.2023.1132364

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