Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.
Shamseldin
Hanan E
HE
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Rahbeeni
Zuhair
Z
Alkuraya
Fowzan S
FS
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D016384:Consensus Sequence / Q000235:genetics*; D019334:Endothelin-3 / Q000737:chemistry / Q000235:genetics*; D004789:Enzyme Activation; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D014849:Waardenburg Syndrome / Q000235:genetics*
D019334:Endothelin-3