pmc.ncbi.nlm.nih.gov
Dyspnea and ventilator dependence after birth in a full-term ...
诊断：ABCA3基因突变所致的婴儿弥漫性ILD。诊断依据：（1）足月顺产女婴，生后出现气促、呻吟、发绀，有低氧血症、呼吸衰竭 ...
基因ABCA3
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cn.sinobiological.com
ABCA3 基本信息| Sino Biological - 义翘神州
ABCA3 官方名，别称，所属基因家族以及ABCA3 蛋白,基因 ... ABCA3 基本信息: ABCA3 蛋白、基因. ABCA3 Protein Information. ABCA3 Gene Information ...
medlineplus.gov
ABCA3 gene: MedlinePlus Genetics
Jul 1, 2012 ... The ABCA3 gene provides instructions for making a protein involved in surfactant production. Surfactant is a mixture of certain fats (called phospholipids) and ...
www.zgddek.com
ABCA3基因定点突变及其在A549细胞株中的表达
目的探讨构建与新生儿呼吸窘迫综合征相关的ABCA3 基因突变体c.875A>T(p.E292V)和c.2169G>A(p.M723I)及其绿色荧光表达载体的方法,并观察其在人肺腺癌(A549)细胞株中的 ...
www.uptodate.com
遗传性表面活性物质功能障碍疾病 - UpToDate
Jan 20, 2026 ... ABCA3序列变异 · SFTPB序列变异和SP-B缺乏 · SFTPC序列变异 · NKX2-1序列 ... 结局 · 表面活性物质相关基因作为疾病的修饰基因 · 相关疾病 · 总结与推荐 ...
www.ncbi.nlm.nih.gov
ABCA3 ATP binding cassette subfamily A member 3 [ (human)]
Mar 3, 2026 ... Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of ...
www.nejm.org
ABCA3 Gene Mutations in Newborns with Fatal Surfactant ...
Pulmonary surfactant forms a lipid-rich monolayer that coats the airways of the lung and is essential for proper inflation and function of the lung.
www.nature.com
Variants of the ABCA3 gene might contribute to susceptibility ...
Jun 22, 2017 ... Biallelic mutations of ABCA3 has been associated with fatal respiratory distress syndrome and interstitial lung disease (ILD) in children.
www.uniprot.org
q99758 · abca3_human - UniProt
Q99758 · ABCA3_HUMAN. Protein. Phospholipid-transporting ATPase ABCA3. Gene. ABCA3.
omim.org
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3
ABCA3, which is expressed in alveolar type II pneumocytes and localizes predominantly to the limiting membrane of lamellar bodies, is critical for synthesis of ...