Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

Author:

Schlipf N.A.1,Vahlquist A.2,Teigen N.3,Virtanen M.2,Dragomir A.4,Fismen S.5,Barenboim M.167,Manke T.6,Rösler B.1,Zimmer A.1,Fischer J.1

Affiliation:

1. Institute of Human Genetics; University Medical Center of Freiburg; Breisacher Straße 33 79106 Freiburg Germany

2. Department of Medical Sciences; Uppsala University; Uppsala Sweden

3. Department of Dermatology; University Hospital of North Norway; Tromsø Norway

4. Department of Immunology, Genetics and Pathology; Uppsala University; Uppsala Sweden

5. Department of Pathology; University Hospital of North Norway; Tromsø Norway

6. Max Planck Institute of Immunobiology and Epigenetics; Bioinformatics Unit; Freiburg Germany

7. Klinikum Rechts der Isar; Department of Medicine II; Technische Universität München; München Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Dermatology

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