Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

Human Genetics

Volumn 133, Issue 8, 2014, Pages 1023-1039

  Mirzaa, Ghayda M ^a   Vitre, Benjamin ^b   Carpenter, Gillian ^c   Abramowicz, Iga ^c   Gleeson, Joseph G ^d   Paciorkowski, Alex R ^e   Cleveland, Don W ^b   Dobyns, William B ^a   O'Driscoll, Mark ^c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF SUSSEX   (United Kingdom)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SEQUENCE; CELL CYCLE; CELLS, CULTURED; CENTROMERE; CENTROSOME; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME SEGREGATION; DEVELOPMENTAL DISABILITIES; DWARFISM; FEMALE; FETAL GROWTH RETARDATION; HUMANS; KINETOCHORES; LYMPHOCYTES; MALE; MICROCEPHALY; MITOSIS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PHOSPHORYLATION; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84904420531     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1443-3     Document Type: Article

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