新型表面活性剂C变异c.325-47_374del没有对氧化治疗的反应
Simona Drobnakova1, Veronika Vargova1, Jana Smolova1
1Department of Pediatric and Adolescent Medicine, Faculty of Medicine, P.J. Safarik University, Tr. SNP 1, Kosice, 040 01, Slovak Republic.
Respiratory medicine case reports
|May 13, 2024
概括
一种新的SFTPC基因删除导致婴儿致命的呼吸衰竭. 这种致病变体c.325-47_374del强调了新生儿严重肺部疾病的遗传基础.
科学领域:
- 肺部医学 肺部医学
- 遗传学 是一个遗传学.
- 儿科重症监护 儿科重症监护
背景情况:
- 表面活性蛋白C (SP-C) 对于肺功能至关重要.
- 在SFTPC基因的突变导致各种肺部疾病.
- 这些突变遵循自体主导遗传或发生 de novo.
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