A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

Johann Bauer; F Rouan; Barbara Kofler; G A Rezniczek; I Kornacker; Wolfgang Muss; R Hametner; Alfred Klausegger; A Huber; G Pohla-Gubo; G Wiche; J Uitto; Helmut Hintner

doi:10.1016/S0002-9440(10)64003-5

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

Johann Bauer^* (First author)
, F Rouan
, Barbara Kofler (Co-author)
, G A Rezniczek
, I Kornacker
, Wolfgang Muss (Co-author)
, R Hametner
, Alfred Klausegger (Co-author)
, A Huber
, G Pohla-Gubo
, G Wiche
, J Uitto
, Helmut Hintner (Last author)

^*Corresponding author for this work

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

43 Citations (Web of Science)

Original language	English
Pages (from-to)	617-625
Journal	AMERICAN JOURNAL OF PATHOLOGY
Volume	158
Issue number	2
DOIs	https://doi.org/10.1016/S0002-9440(10)64003-5
Publication status	Published - 2001

Keywords

MUSCULAR-DYSTROPHY
INTERMEDIATE FILAMENTS
ORGANIZATION
MUSCLE
ACTIN
CYTOSKELETON
ASSOCIATION
DYNAMICS
BINDING
SUBUNIT

Access to Document

10.1016/S0002-9440(10)64003-5

Cite this

Bauer, J., Rouan, F., Kofler, B., Rezniczek, G. A., Kornacker, I., Muss, W., Hametner, R., Klausegger, A., Huber, A., Pohla-Gubo, G., Wiche, G., Uitto, J., & Hintner, H. (2001). A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. AMERICAN JOURNAL OF PATHOLOGY , 158(2), 617-625. https://doi.org/10.1016/S0002-9440(10)64003-5

Bauer, Johann ; Rouan, F ; Kofler, Barbara et al. / A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. In: AMERICAN JOURNAL OF PATHOLOGY 2001 ; Vol. 158, No. 2. pp. 617-625.

@article{85508f73cba14fb78246a97ec4839fba,

title = "A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.",

keywords = "MUSCULAR-DYSTROPHY, INTERMEDIATE FILAMENTS, ORGANIZATION, MUSCLE, ACTIN, CYTOSKELETON, ASSOCIATION, DYNAMICS, BINDING, SUBUNIT",

author = "Johann Bauer and F Rouan and Barbara Kofler and Rezniczek, \{G A\} and I Kornacker and Wolfgang Muss and R Hametner and Alfred Klausegger and A Huber and G Pohla-Gubo and G Wiche and J Uitto and Helmut Hintner",

note = "Bauer *†, Kofler *†, Muss ‡, Hametner*, Klausegger*, Huber*, Pohla-Gubo*, Hintner*: * Department of Dermatology, Salzburg, Austria, † Children{\textquoteright}s Hospital, Salzburg, Austria, ‡ Institute of Pathology, General Hospital Salzburg, Salzburg, Austria",

year = "2001",

doi = "10.1016/S0002-9440(10)64003-5",

language = "English",

volume = "158",

pages = "617--625",

journal = "AMERICAN JOURNAL OF PATHOLOGY ",

issn = "0002-9440",

number = "2",

}

Bauer, J, Rouan, F, Kofler, B, Rezniczek, GA, Kornacker, I, Muss, W, Hametner, R, Klausegger, A, Huber, A, Pohla-Gubo, G, Wiche, G, Uitto, J & Hintner, H 2001, 'A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.', AMERICAN JOURNAL OF PATHOLOGY , vol. 158, no. 2, pp. 617-625. https://doi.org/10.1016/S0002-9440(10)64003-5

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. / Bauer, Johann (First author); Rouan, F; Kofler, Barbara (Co-author) et al.
In: AMERICAN JOURNAL OF PATHOLOGY , Vol. 158, No. 2, 2001, p. 617-625.

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

TY - JOUR

T1 - A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

AU - Bauer, Johann

AU - Rouan, F

AU - Kofler, Barbara

AU - Rezniczek, G A

AU - Kornacker, I

AU - Muss, Wolfgang

AU - Hametner, R

AU - Klausegger, Alfred

AU - Huber, A

AU - Pohla-Gubo, G

AU - Wiche, G

AU - Uitto, J

AU - Hintner, Helmut

N1 - Bauer *†, Kofler *†, Muss ‡, Hametner*, Klausegger*, Huber*, Pohla-Gubo*, Hintner*: * Department of Dermatology, Salzburg, Austria, † Children’s Hospital, Salzburg, Austria, ‡ Institute of Pathology, General Hospital Salzburg, Salzburg, Austria

PY - 2001

Y1 - 2001

KW - MUSCULAR-DYSTROPHY

KW - INTERMEDIATE FILAMENTS

KW - ORGANIZATION

KW - MUSCLE

KW - ACTIN

KW - CYTOSKELETON

KW - ASSOCIATION

KW - DYNAMICS

KW - BINDING

KW - SUBUNIT

U2 - 10.1016/S0002-9440(10)64003-5

DO - 10.1016/S0002-9440(10)64003-5

M3 - Original Article

C2 - 11159198

SN - 0002-9440

VL - 158

SP - 617

EP - 625

JO - AMERICAN JOURNAL OF PATHOLOGY

JF - AMERICAN JOURNAL OF PATHOLOGY

IS - 2

ER -

Bauer J, Rouan F, Kofler B, Rezniczek GA, Kornacker I, Muss W et al. A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. AMERICAN JOURNAL OF PATHOLOGY . 2001;158(2):617-625. doi: 10.1016/S0002-9440(10)64003-5