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

Human Molecular Genetics

Volumn 18, Issue 24, 2009, Pages 4791-4800

  Clark, Alice R ^a   Sawyer, Gregory M ^a   Robertson, Stephen P ^b   Sutherland Smith, Andrew J ^a  

^a MASSEY UNIVERSITY   (New Zealand)

^b UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

F ACTIN; FILAMIN A;

ALLELE; ARTICLE; BONE DYSPLASIA; CELL ADHESION; CELL LYSATE; CELL MOTILITY; CIRCULAR DICHROISM; CONTROLLED STUDY; CRYSTAL STRUCTURE; DIFFERENTIAL SCANNING FLUOROMETRY; EX VIVO STUDY; FIBROBLAST; FLUOROMETRY; GENE EXPRESSION; GENE FUNCTION; HUMAN; HUMAN CELL; IN VITRO STUDY; MUTATIONAL ANALYSIS; OTOPALATODIGITAL SYNDROME; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN STABILITY; STRUCTURE ANALYSIS; WILD TYPE;

AMINO ACID SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CELL ADHESION; CELL MOVEMENT; CONTRACTILE PROTEINS; CRYSTALLOGRAPHY, X-RAY; EAR OSSICLES; FEMALE; FIBROBLASTS; FINGERS; HUMANS; MALE; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PALATE; PROTEIN STRUCTURE, TERTIARY; SYNDROME; TOES;

EID: 70450161225     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp442     Document Type: Article

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