A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

Elisabeth Riedl; Alfred Klausegger; Johann Bauer; Dagmar Foedinger; Harald Kittler

doi:10.1111/j.1525-1470.2008.00846.x

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

Elisabeth Riedl, Alfred Klausegger (Co-author), Johann Bauer (Co-author), Dagmar Foedinger, Harald Kittler

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

4 Citations (Web of Science)

Original language	English
Pages (from-to)	115-117
Journal	PEDIATRIC DERMATOLOGY
Volume	26
Issue number	1
DOIs	https://doi.org/10.1111/j.1525-1470.2008.00846.x
Publication status	Published - 2009

Keywords

PRURIGINOSA

Access to Document

10.1111/j.1525-1470.2008.00846.x

Cite this

Riedl, E., Klausegger, A., Bauer, J., Foedinger, D., & Kittler, H. (2009). A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. PEDIATRIC DERMATOLOGY , 26(1), 115-117. https://doi.org/10.1111/j.1525-1470.2008.00846.x

Riedl, Elisabeth ; Klausegger, Alfred ; Bauer, Johann et al. / A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. In: PEDIATRIC DERMATOLOGY 2009 ; Vol. 26, No. 1. pp. 115-117.

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title = "A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.",

keywords = "PRURIGINOSA",

author = "Elisabeth Riedl and Alfred Klausegger and Johann Bauer and Dagmar Foedinger and Harald Kittler",

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Riedl, E, Klausegger, A , Bauer, J, Foedinger, D & Kittler, H 2009, 'A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.', PEDIATRIC DERMATOLOGY , vol. 26, no. 1, pp. 115-117. https://doi.org/10.1111/j.1525-1470.2008.00846.x

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. / Riedl, Elisabeth; Klausegger, Alfred (Co-author); Bauer, Johann (Co-author) et al.
In: PEDIATRIC DERMATOLOGY , Vol. 26, No. 1, 2009, p. 115-117.

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

TY - JOUR

T1 - A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

AU - Riedl, Elisabeth

AU - Klausegger, Alfred

AU - Bauer, Johann

AU - Foedinger, Dagmar

AU - Kittler, Harald

N1 - Department of Dermatology, Paracelsus Private Medical University, Salzburg, Austria

PY - 2009

Y1 - 2009

KW - PRURIGINOSA

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DO - 10.1111/j.1525-1470.2008.00846.x

M3 - Original Article

C2 - 19250433

SN - 0736-8046

VL - 26

SP - 115

EP - 117

JO - PEDIATRIC DERMATOLOGY

JF - PEDIATRIC DERMATOLOGY

IS - 1

ER -

Riedl E, Klausegger A , Bauer J, Foedinger D, Kittler H. A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. PEDIATRIC DERMATOLOGY . 2009;26(1):115-117. doi: 10.1111/j.1525-1470.2008.00846.x