A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

European Journal of Paediatric Neurology

Volumn 14, Issue 2, 2010, Pages 182-187

  Shah, Siddharth ^a   Kumar, Yadlapalli ^b   McLean, Brendan ^b   Churchill, Amanda ^c   Stoodley, Neil ^d   Rankin, Julia ^e   Rizzu, Patrizia ^f   van der Knaap, Marjo ^f   Jardine, Philip ^a  

^a BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^b ROYAL CORNWALL HOSPITALS NHS TRUST   (United Kingdom)

^c BRISTOL EYE HOSPITAL   (United Kingdom)

^d NORTH BRISTOL NHS TRUST   (United Kingdom)

^e ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cataracts; Collagen 4A1; Leukoencephalopathy; Mutation

Indexed keywords

ARGININE; COLLAGEN TYPE 4; COLLAGEN TYPE 4A1; GLYCINE; UNCLASSIFIED DRUG;

ADOLESCENT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD CLOTTING; BRAIN HEMORRHAGE; CASE REPORT; CATARACT; CHILDHOOD DISEASE; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; DOMINANT INHERITANCE; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; HEADACHE; HEMIPARESIS; HETEROZYGOTE; HUMAN; LEUKOENCEPHALOPATHY; LIMB WEAKNESS; MALE; MIGRAINE; MISSENSE MUTATION; MOTOR NEURON DISEASE; MULTIPLE SCLEROSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PORENCEPHALY; PRIORITY JOURNAL; RECURRENT DISEASE; SEQUENCE ANALYSIS; SPEECH DISORDER; STROKE;

ADOLESCENT; ADULT; CATARACT; COLLAGEN; DEMENTIA, VASCULAR; EXONS; GLYCOPROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MIGRAINE DISORDERS; MULTIPLE SCLEROSIS; MUTATION, MISSENSE; POINT MUTATION; STROKE; YOUNG ADULT;

EID: 75349104289     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2009.04.010     Document Type: Article

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