Article révisé par les pairs
Titre:
  • A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
Auteur:Pichon, Bruno; Vankerckhove, Sophie; Bourrouillou, Georges; Duprez, Laurence; Abramowicz, Marc
Informations sur la publication:European journal of human genetics, 12, 5, page (419-421)
Statut de publication:Publié, 2004-05
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Brain development
MCPH5
Mendelian cytogenetics
MeSH keywords:Chromosome Banding
Chromosome Breakage -- genetics
Chromosomes, Human, Pair 1 -- genetics
Chromosomes, Human, Pair 4 -- genetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Microcephaly -- genetics
Microcephaly -- pathology
Mutation
Nerve Tissue Proteins -- genetics
Translocation, Genetic
Note générale:Case Reports
Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1018-4813
info:doi/10.1038/sj.ejhg.5201169
info:pii/5201169
info:scp/2442686701
info:pmid/14997185