A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.


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Yıldırım Y., Orhan E., Iseri S., Serdaroglu-Oflazer P., Kara B., Solakoğlu S., ...More

Human molecular genetics, vol.20, pp.1886-92, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20
  • Publication Date: 2011
  • Doi Number: 10.1093/hmg/ddr070
  • Journal Name: Human molecular genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1886-92
  • Kocaeli University Affiliated: Yes