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Volumn 48, Issue 10, 2016, Pages 1185-1192

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

(66)  Jenkinson, Emma M a   Rodero, Mathieu P b   Kasher, Paul R a   Uggenti, Carolina b   Oojageer, Anthony a   Goosey, Laurence C a   Rose, Yoann b   Kershaw, Christopher J a   Urquhart, Jill E a   Williams, Simon G a   Bhaskar, Sanjeev S a   O'Sullivan, James a   Baerlocher, Gabriela M c   Haubitz, Monika c   Aubert, Geraldine d,e   Barañano, Kristin W f,g   Barnicoat, Angela J h   Battini, Roberta i   Berger, Andrea j,k   Blair, Edward M l   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CALCIFICATION; BRAIN CYST; CEREBRAL MICROANGIOPATHY LEUKOENCEPHALOPATHY; CHROMOSOME 17; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SELECTION; GENETIC VARIABILITY; HOMEOSTASIS; HUMAN; HUMAN CELL; LEUKOENCEPHALOPATHY; LOSS OF FUNCTION MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; RARE DISEASE; SNORD118 GENE; ADOLESCENT; ADULT; CALCINOSIS; CELL LINE; CEREBROVASCULAR DISEASE; CHILD; COHORT ANALYSIS; CYST; DNA SEQUENCE; EXOME; GENETIC LINKAGE; GENETICS; HUMAN GENOME; INFANT; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

EID: 84984623213     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3661     Document Type: Article
Times cited : (113)

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