Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

Author: Clark Alice R.   Sawyer Gregory M.   Robertson Stephen P.   Sutherland-Smith Andrew J.  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.18, Iss.24, 2009-12, pp. : 4791-4800

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