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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 |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
中国当代儿科杂志编辑部
2017
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| Materias: | |
| 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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