内皮素 - 3 的共有激活位点的扰动导致 IV 型 Waardenburg 综合征。
Mesh : Amino Acid Sequence Base Sequence Child Consensus Sequence / genetics Endothelin-3 / chemistry genetics Enzyme Activation Female Humans Infant, Newborn Male Molecular Sequence Data Mutation / genetics Pregnancy Waardenburg Syndrome / genetics
来 源:
DOI:10.1002/ajmg.a.33123
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