Title : Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect.

Pub. Date : 2021 Mar 1

PMID : 33075386






1 Functional Relationships(s)
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1 Western blotting confirmed that tyrosine phosphorylation in STAT5, a substrate of ABL1, was enhanced, and the novel mutation was proved to be a gain-of-function mutation. Tyrosine ABL proto-oncogene 1, non-receptor tyrosine kinase Homo sapiens