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

Author: Yıldırım Yeşerin   Kocasoy Orhan Elif   Ugur Iseri Sibel Aylin   Serdaroglu-Oflazer Piraye   Kara Bülent   Solakoğlu Seyhun   Tolun Aslhan  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.20, Iss.10, 2011-05, pp. : 1886-1892

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Abstract