COL4A2 mutation associated with familial porencephaly and small-vessel disease

European Journal of Human Genetics

Volumn 20, Issue 8, 2012, Pages 844-851

  Verbeek, Elly ^a   Meuwissen, Marije E C ^a   Verheijen, Frans W ^a   Govaert, Paul P ^a   Licht, Daniel J ^b   Kuo, Debbie S ^c   Poulton, Cathryn J ^a   Schot, Rachel ^a   Lequin, Maarten H ^a   Dudink, Jeroen ^a   Halley, Dicky J ^a   De Coo, René I F ^a   Den Hollander, Jan C ^a   Oegema, Renske ^a   Gould, Douglas B ^c   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

COL4A2; collagen IV; porencephaly; small vessel disease

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; CAROTID ARTERY ANEURYSM; CEREBELLUM HYPOPLASIA; CEREBROVASCULAR DISEASE; CHILD; CLINICAL ARTICLE; COL4A2 GENE; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM STRESS; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC RISK; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; OPTIC NERVE HYPOPLASIA; PHENOTYPE; PORENCEPHALY; PRIORITY JOURNAL; SKIN BIOPSY; WHITE MATTER LESION;

ADOLESCENT; ADULT; ANIMALS; APOPTOSIS; BASE SEQUENCE; BASEMENT MEMBRANE; BRAIN; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; CONSANGUINITY; ENDOPLASMIC RETICULUM STRESS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMIPLEGIA; HETEROZYGOTE; HUMANS; INFANT; INTRACRANIAL ANEURYSM; MAGNETIC RESONANCE IMAGING; MALE; MICE; MICE, KNOCKOUT; MUTATION; PEDIGREE; SKIN; YOUNG ADULT;

MUS;

EID: 84864130509     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.20     Document Type: Article

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