ASPM mutations identified in patients with primary microcephaly and seizures

Journal of Medical Genetics

Volumn 42, Issue 9, 2005, Pages 725-729

  Shen, J ^a   Eyaid, W ^b   Mochida, G H ^a   Al Moayyad, F ^b   Bodell, A ^a   Woods, C G ^c   Walsh, Christopher A ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b KING FAHAD NATIONAL GUARD HOSPITAL   (Saudi Arabia)

^c UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; ASPM GENE; CHROMOSOME 1Q; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC IMAGING; EXON; FEMALE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; IMAGE ANALYSIS; MALE; MICROCEPHALY; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

BRAIN; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SAUDI ARABIA; SEIZURES;

EID: 24944465271     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.027706     Document Type: Article

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