A novel multiplex analysis of filaggrin polymorphisms: A universally applicable method for genotyping

Michael Meldgaard; Pal B Szecsi; Berit C Carlsen; Jacob P Thyssen; Jeanne D Johansen; Torkil Menné; Steen Stender

doi:10.1016/j.cca.2012.06.014

A novel multiplex analysis of filaggrin polymorphisms: A universally applicable method for genotyping

Michael Meldgaard, Pal B Szecsi, Berit C Carlsen, Jacob P Thyssen, Jeanne D Johansen, Torkil Menné, Steen Stender

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

52 Citationer (Scopus)

Abstract

The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.

Originalsprog	Engelsk
Tidsskrift	Clinica Chimica Acta
Vol/bind	413
Udgave nummer	19-20
Sider (fra-til)	1488-92
Antal sider	5
ISSN	0009-8981
DOI	https://doi.org/10.1016/j.cca.2012.06.014
Status	Udgivet - 2012

Adgang til dokumentet

10.1016/j.cca.2012.06.014

Citationsformater

A novel multiplex analysis of filaggrin polymorphisms : A universally applicable method for genotyping. / Meldgaard, Michael; Szecsi, Pal B; Carlsen, Berit C; Thyssen, Jacob P ; Johansen, Jeanne D; Menné, Torkil; Stender, Steen.

I: Clinica Chimica Acta, Bind 413, Nr. 19-20, 2012, s. 1488-92.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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abstract = "The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.",

author = "Michael Meldgaard and Szecsi, {Pal B} and Carlsen, {Berit C} and Thyssen, {Jacob P} and Johansen, {Jeanne D} and Torkil Menn{\'e} and Steen Stender",

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T2 - A universally applicable method for genotyping

AU - Meldgaard, Michael

AU - Szecsi, Pal B

AU - Carlsen, Berit C

AU - Thyssen, Jacob P

AU - Johansen, Jeanne D

AU - Menné, Torkil

AU - Stender, Steen

PY - 2012

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AB - The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.

U2 - 10.1016/j.cca.2012.06.014

DO - 10.1016/j.cca.2012.06.014

M3 - Journal article

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JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

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