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首例非白人婴儿肝衰竭综合征1型患儿临床特点和分子诊断研究

Infantile liver failure syndrome type 1 (ILFS1) is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-tRNA synthetase gene (LARS). This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient, providing reliable evidences for the defin...

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Publicado en:Zhongguo Dang Dai Er Ke Za Zhi
Formato: Artigo
Lenguaje:Inglês
Publicado: 中国当代儿科杂志编辑部 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7390053/
https://ncbi.nlm.nih.gov/pubmed/28774368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.08.013
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