DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
de Haar SF, Jansen DC, Schoenmaker T, De Vree H, Everts V, Beertsen W.
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
Hum Mutat 2004;
23 (05) 524 . Doi: 10.1002/humu.9243
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