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Original article
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Authors

  • Joakim Klar Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Jens Schuster Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Tahir Naeem Khan Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan PubMed articlesGoogle scholar articles
  • Muhammad Jameel Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan PubMed articlesGoogle scholar articles
  • Katrin Mäbert Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Lars Forsberg Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Shehla Anjum Baig Department of Pathology, Children's Hospital, Pakistan Institute of Medical Sciences, (PIMS), Islamabad, Pakistan PubMed articlesGoogle scholar articles
  • Shahid Mahmood Baig Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan PubMed articlesGoogle scholar articles
  • Niklas Dahl Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Niklas Dahl, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, BMC, Box 815, Uppsala 752 37, Sweden; niklas.dahl{at}igp.uu.se
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Citation

Klar J, Schuster J, Khan TN, et al
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans
Journal of Medical Genetics 2015;52:599-606.

Publication history

  • Received December 12, 2014
  • Revised May 27, 2015
  • Accepted June 14, 2015
  • First published July 3, 2015.
Online issue publication 
February 16, 2018

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