Early-onset respiratory distress in a patient with compound heterozygous pathogenic variants in FARS2

IF 3.7 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM

Molecular genetics and metabolism Pub Date : 2024-04-01 DOI:10.1016/j.ymgme.2024.108221

Jillian Jetmore, Eliza Gordon-Lipkin, Shannon Kruk, Peter McGuire

引用次数: 0

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一名 FARS2 复合杂合子致病变异体患者的早发呼吸窘迫症

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular genetics and metabolism 生物-生化与分子生物学

CiteScore

5.90

自引率

7.90%

发文量

621

审稿时长

34 days

期刊介绍： Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.