Titre :
  • Protein-truncating mutations in ASPM cause variable reduction in brain size.
Auteur : Bond, Jacquelyn ; Scott, S. ; Hampshire, Daniel J ; Springell, Kelly ; Corry, Peter ; Abramowicz, Marc ; Mochida, Ganesh H ; Hennekam, R C ; Maher, Eamonn R ; Fryns, J P ; Alswaid, Abdulrahman ; Jafri, Hussain ; Rashid, Yasmin ; Mubaidin, Ammar ; Walsh, C A ; Roberts, Emma ; Woods, C Geoffrey
Informations sur la publication : American journal of human genetics, 73, 5, (page 1170-1177)
Statut de publication : Publié, 2003-11
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Amino Acid Sequence
Base Sequence
Brain -- abnormalities
Brain -- metabolism
Brain -- pathology
Chromosomes, Human, Pair 1 -- genetics
Codon, Nonsense -- genetics
Consanguinity
DNA Mutational Analysis
Exons -- genetics
Frameshift Mutation -- genetics
Genes, Recessive -- genetics
Haplotypes -- genetics
Humans
Introns -- genetics
Male
Mental Retardation -- complications
Mental Retardation -- genetics
Mental Retardation -- physiopathology
Microcephaly -- complications
Microcephaly -- genetics
Microcephaly -- pathology
Microsatellite Repeats -- genetics
Mutation -- genetics
Nerve Tissue Proteins -- genetics
Pakistan
Phenotype
Polymorphism, Genetic -- genetics
RNA, Messenger -- genetics
RNA, Messenger -- metabolism
Note : Journal Article
SCOPUS: ar.j
Langue :
  • Anglais
Identificateurs : urn:issn:0002-9297 
info:doi/10.1086/379085
info:pii/S0002-9297(07)61979-X
info:pmid/14574646
info:pmcid/PMC1180496