COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and walker-warburg syndrome in humans

PLoS Genetics

Volumn 7, Issue 5, 2011, Pages

  Labelle Dumais, Cassandre ^a   Dilworth, David J ^a,e   Harrington, Emily P ^a   de Leau, Michelle ^a   Lyons, David ^a   Kabaeva, Zhyldyz ^b   Manzini, M Chiara ^c   Dobyns, William B ^d   Walsh, Christopher A ^c   Michele, Daniel E ^b   Gould, Douglas B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

^e INSTITUTE FOR SYSTEMS BIOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 1; UNCLASSIFIED DRUG; COL4A1 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EYE MALFORMATION; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MOUSE; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NEURONAL MIGRATION DISORDER; NONHUMAN; PATHOGENESIS; PROTEIN EXPRESSION; PROTEIN PROCESSING; WALKER WARBURG SYNDROME; ANIMAL; EYE; GENETICS; METABOLISM; MUSCLE DISEASE; MUTATION; NERVE CELL; NUCLEOTIDE SEQUENCE; PATHOLOGY; SEQUENCE ALIGNMENT;

MUS;

ANIMALS; APOPTOSIS; BASE SEQUENCE; COLLAGEN TYPE IV; EYE; HUMANS; MICE; MUSCULAR DISEASES; MUTATION; NEURONS; SEQUENCE ALIGNMENT; WALKER-WARBURG SYNDROME;

EID: 79957998059     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002062     Document Type: Article

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