Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

Human Molecular Genetics

Volumn 22, Issue 2, 2013, Pages 391-397

  Lemmens, Robin ^a,b,c   Maugeri, Alessandra ^d   Niessen, Hans W M ^d   Goris, An ^b   Tousseyn, Thomas ^c   Demaerel, Philippe ^c   Corveleyn, Anniek ^b   Robberecht, Wim ^a,b,c   Knaap, Van der ^d   Thijs, Vincent N ^a,b,c   Zwijnenburg, Petra J G ^d  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COL4A1 PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BRAIN HEMORRHAGE; CAPILLARY BASEMENT MEMBRANE; CLINICAL ARTICLE; ELECTRON MICROSCOPY; EXON; FEMALE; FIBROBLAST; GENE DELETION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NEURORADIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; STOP CODON;

ADULT; AGED; BASE SEQUENCE; BASEMENT MEMBRANE; BRAIN; CEREBRAL SMALL VESSEL DISEASES; COLLAGEN TYPE IV; FEMALE; FIBROBLASTS; HAPLOINSUFFICIENCY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84872025744     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds436     Document Type: Article

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