Mutation in <i>LBX1/Lbx1</i> precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.
第一单位:
Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany.
作者:
主题词
动物(Animals);动物, 新生(Animals, Newborn);细胞, 培养的(Cells, Cultured);女(雌)性(Female);移码突变(Frameshift Mutation);全基因组关联研究(Genome-Wide Association Study);同源盒结构域蛋白质类(Homeodomain Proteins);人类(Humans);通气不足(Hypoventilation);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);肌蛋白质类(Muscle Proteins);神经元(Neurons);系谱(Pedigree);呼吸(Respiration);睡眠呼吸暂停,中枢性(Sleep Apnea, Central);转录因子(Transcription Factors)
DOI
10.1073/pnas.1813520115
PMID
30487221
发布时间
2020-02-25
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