Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Nature Genetics

Volumn 43, Issue 4, 2011, Pages 360-365

  Guernsey, Duane L ^a   Matsuoka, Makoto ^a   Jiang, Haiyan ^a   Evans, Susan ^a   MacGillivray, Christine ^a   Nightingale, Mathew ^a   Perry, Scott ^a   Ferguson, Meghan ^b   Leblanc, Marissa ^c   Paquette, Jean ^d   Patry, Lysanne ^d   Rideout, Andrea L ^b   Thomas, Aidan ^b   Orr, Andrew ^a   McMaster, Chris R ^c   Michaud, Jacques L ^d   Deal, Cheri ^d   Langlois, Sylvie ^e   Superneau, Duane W ^f   Parkash, Sandhya ^a,b   Ludman, Mark ^a,b   Skidmore, David L ^a,b   Samuels, Mark E ^a,d   more..

^a DALHOUSIE UNIVERSITY   (Canada)

^b IWK HEALTH CENTRE   (Canada)

^c DALHOUSIE UNIVERSITY   (Canada)

^d CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f Our Lady of the Lake Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ORIGIN RECOGNITION COMPLEX; PROTEIN ORIGIN RECOGNITION COMPLEX 4; REPLICATION LICENSING FACTOR CDT1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BASAL CELL NEVUS SYNDROME; CELL ASSAY; CELL GROWTH; CONTROLLED STUDY; EUKARYOTE; FEMALE; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; YEAST;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CONSERVED SEQUENCE; DNA; EAR; FEMALE; FOUNDER EFFECT; GROWTH DISORDERS; HAPLOTYPES; HUMANS; MALE; MICROGNATHISM; MOLECULAR SEQUENCE DATA; MUTATION; ORIGIN RECOGNITION COMPLEX; PATELLA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE HOMOLOGY, AMINO ACID;

EUKARYOTA; VERTEBRATA;

EID: 79953203480     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.777     Document Type: Article

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