Titre:
  • WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Auteur:Nicholas, Adeline K; Khurshid, Maryam; Désir, Julie; Carvalho, Ofélia P; Cox, James J; Thornton, Gemma; Kausar, Rizwana; Ansar, Muhammad; Ahmad, Wasim; Verloes, Alain; Passemard, Sandrine; Misson, J-P; Lindsay, Susan; Gergely, Fanni; Dobyns, WB; Roberts, Emma; Abramowicz, Marc; Woods, C Geoffrey
Informations sur la publication:Nature genetics, 42, 11, page (1010-1014)
Statut de publication:Publié, 2010-11
Sujet CREF:Génétique clinique
Génétique cellulaire
Génétique moléculaire
MeSH keywords:Animals
Brain -- anatomy & histology
Chromosome Mapping
Exons -- genetics
Family
Female
Frameshift Mutation
Genes, Recessive
HeLa Cells -- cytology
Homozygote
Humans
Male
Mice
Microcephaly -- genetics
Mitotic Spindle Apparatus -- genetics
Mutation, Missense
Nerve Tissue Proteins -- genetics
Oligonucleotide Array Sequence Analysis -- methods
Note générale:Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1061-4036
info:doi/10.1038/ng.682
info:pii/ng.682
info:scp/78049336070
info:pmid/20890279
info:ulb-repo/set/1#20143