Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs

S.F. de Haar; D.C. Jansen; A.M. Schoenmaker; H. de Vree; V. Everts; W. Beertsen

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs

S.F. de Haar
, D.C. Jansen
, A.M. Schoenmaker
, H. de Vree
, V. Everts
, W. Beertsen

Research output: Contribution to Journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	524-530
Journal	Human Mutation
Volume	23
Publication status	Published - 2004

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@article{f9d289ecf22d4ce1bd5f89b64428f335,

title = "Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs",

author = "\{de Haar\}, S.F. and D.C. Jansen and A.M. Schoenmaker and \{de Vree\}, H. and V. Everts and W. Beertsen",

year = "2004",

language = "Undefined/Unknown",

volume = "23",

pages = "524--530",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

}

TY - JOUR

T1 - Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs

AU - de Haar, S.F.

AU - Jansen, D.C.

AU - Schoenmaker, A.M.

AU - de Vree, H.

AU - Everts, V.

AU - Beertsen, W.

PY - 2004

Y1 - 2004

UR - https://www.scopus.com/pages/publications/4444343709

UR - https://www.scopus.com/pages/publications/4444343709#tab=citedBy

M3 - Article

SN - 1059-7794

VL - 23

SP - 524

EP - 530

JO - Human Mutation

JF - Human Mutation

ER -

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs

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