Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes

Eugene A. de Zwart-Storm; Rafael F. M. Rosa; Patricia E. Martin; Regina Foelster-Holst; Jorge Frank; Ana E. K. Bau; Paulo R. G. Zen; Carla Graziadio; Giorgio A. Paskulin; Miriam A. Kamps; Michel van Geel; Maurice A. M. van Steensel

doi:10.1111/j.1600-0625.2010.01222.x

Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes

Eugene A. de Zwart-Storm^*, Rafael F. M. Rosa, Patricia E. Martin, Regina Foelster-Holst, Jorge Frank, Ana E. K. Bau, Paulo R. G. Zen, Carla Graziadio, Giorgio A. Paskulin, Miriam A. Kamps, Michel van Geel, Maurice A. M. van Steensel

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	408-412
Journal	Experimental Dermatology
Volume	20
Issue number	5
DOIs	https://doi.org/10.1111/j.1600-0625.2010.01222.x
Publication status	Published - May 2011

Keywords

connexin26
gap junction
GJB2
keratitis-ichthyosis-deafness syndrome

Access to Document

10.1111/j.1600-0625.2010.01222.x

Cite this

de Zwart-Storm, E. A., Rosa, R. F. M., Martin, P. E., Foelster-Holst, R., Frank, J., Bau, A. E. K., Zen, P. R. G., Graziadio, C., Paskulin, G. A., Kamps, M. A., van Geel, M., & van Steensel, M. A. M. (2011). Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. Experimental Dermatology, 20(5), 408-412. https://doi.org/10.1111/j.1600-0625.2010.01222.x

de Zwart-Storm, Eugene A. ; Rosa, Rafael F. M. ; Martin, Patricia E. ; Foelster-Holst, Regina ; Frank, Jorge ; Bau, Ana E. K. ; Zen, Paulo R. G. ; Graziadio, Carla ; Paskulin, Giorgio A. ; Kamps, Miriam A. ; van Geel, Michel ; van Steensel, Maurice A. M. / Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. In: Experimental Dermatology. 2011 ; Vol. 20, No. 5. pp. 408-412.

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title = "Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes",

keywords = "connexin26, gap junction, GJB2, keratitis-ichthyosis-deafness syndrome",

author = "{de Zwart-Storm}, {Eugene A.} and Rosa, {Rafael F. M.} and Martin, {Patricia E.} and Regina Foelster-Holst and Jorge Frank and Bau, {Ana E. K.} and Zen, {Paulo R. G.} and Carla Graziadio and Paskulin, {Giorgio A.} and Kamps, {Miriam A.} and {van Geel}, Michel and {van Steensel}, {Maurice A. M.}",

year = "2011",

month = may,

doi = "10.1111/j.1600-0625.2010.01222.x",

language = "English",

volume = "20",

pages = "408--412",

journal = "Experimental Dermatology",

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de Zwart-Storm, EA, Rosa, RFM, Martin, PE, Foelster-Holst, R, Frank, J, Bau, AEK, Zen, PRG, Graziadio, C, Paskulin, GA, Kamps, MA, van Geel, M & van Steensel, MAM 2011, 'Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes', Experimental Dermatology, vol. 20, no. 5, pp. 408-412. https://doi.org/10.1111/j.1600-0625.2010.01222.x

Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. / de Zwart-Storm, Eugene A.; Rosa, Rafael F. M.; Martin, Patricia E.; Foelster-Holst, Regina; Frank, Jorge; Bau, Ana E. K.; Zen, Paulo R. G.; Graziadio, Carla; Paskulin, Giorgio A.; Kamps, Miriam A.; van Geel, Michel; van Steensel, Maurice A. M.

In: Experimental Dermatology, Vol. 20, No. 5, 05.2011, p. 408-412.

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

TY - JOUR

T1 - Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes

AU - de Zwart-Storm, Eugene A.

AU - Rosa, Rafael F. M.

AU - Martin, Patricia E.

AU - Foelster-Holst, Regina

AU - Frank, Jorge

AU - Bau, Ana E. K.

AU - Zen, Paulo R. G.

AU - Graziadio, Carla

AU - Paskulin, Giorgio A.

AU - Kamps, Miriam A.

AU - van Geel, Michel

AU - van Steensel, Maurice A. M.

PY - 2011/5

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KW - connexin26

KW - gap junction

KW - GJB2

KW - keratitis-ichthyosis-deafness syndrome

U2 - 10.1111/j.1600-0625.2010.01222.x

DO - 10.1111/j.1600-0625.2010.01222.x

M3 - Article

VL - 20

SP - 408

EP - 412

JO - Experimental Dermatology

JF - Experimental Dermatology

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