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

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, Scopus)

• 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
• Open Archive Collection: AVESIS Open Access Collection
• Kocaeli University Affiliated: Yes