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  • Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

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Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Authors

  • Rafiullah Rafiullah Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany Department of Human Genetics and Molecular Biology, University of Health Sciences Lahore, Lahore, Pakistan PubMed articlesGoogle scholar articles
  • Muhammad Aslamkhan Department of Human Genetics and Molecular Biology, University of Health Sciences Lahore, Lahore, Pakistan PubMed articlesGoogle scholar articles
  • Nagarajan Paramasivam Division of Theoretical Bioinformatics (B080), German Cancer Research Center (DKFZ), Heidelberg, Germany Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Christian Thiel Department I, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Ghulam Mustafa Molecular and Cellular Modeling (MCM) Group, Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany Center for Molecular Biology, DKFZ-ZMBH Alliance, Heidelberg University, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Stefan Wiemann Genomics and Proteomics Core Facility, German Cancer Research Center (DKFZ), Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Matthias Schlesner Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Rebecca C Wade Molecular and Cellular Modeling (MCM) Group, Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany Center for Molecular Biology, DKFZ-ZMBH Alliance, Heidelberg University, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Gudrun A Rappold Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Simone Berkel Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Gudrun A Rappold, Department of Human Molecular Genetics, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg 69120, Germany; gudrun.rappold{at}med.uni-heidelberg.de
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Citation

Rafiullah R, Aslamkhan M, Paramasivam N, et al
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
Journal of Medical Genetics 2016;53:138-144.

Publication history

  • Received May 6, 2015
  • Revised October 21, 2015
  • Accepted October 22, 2015
  • First published November 13, 2015.
Online issue publication 
April 27, 2016

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