Literature for peptidase M67.006: STAMBP isopeptidase
(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)
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McDonell,L.M., Mirzaa,G.M., Alcantara,D., Schwartzentruber,J., Carter,M.T., Lee,L.J., Clericuzio,C.L., Graham,J.M., Jr., Morris-Rosendahl,D.J., Polster,T., Acsadi,G., Townshend,S., Williams,S., Halbert,A., Isidor,B., David,A., Smyser,C.D., Paciorkowski,A.R., Willing,M., Woulfe,J., Das,S., Beaulieu,C.L., Marcadier,J., Geraghty,M.T., Frey,B.J., Majewski,J., Bulman,D.E., Dobyns,W.B., O'Driscoll,M. and Boycott,K.M.
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
Nat Genet45, 556-562. PubMed Europe PubMed DOI M
2013
