Protein-truncating mutations in ASPM cause variable reduction in brain size. [electronic resource]
Producer: 20040819Description: 1170-7 p. digitalISSN:- 0002-9297
- Amino Acid Sequence
- Base Sequence
- Brain -- abnormalities
- Chromosomes, Human, Pair 1 -- genetics
- Codon, Nonsense -- genetics
- Consanguinity
- DNA Mutational Analysis
- Exons -- genetics
- Frameshift Mutation -- genetics
- Genes, Recessive -- genetics
- Haplotypes -- genetics
- Humans
- Intellectual Disability -- complications
- Introns -- genetics
- Male
- Microcephaly -- complications
- Microsatellite Repeats -- genetics
- Mutation -- genetics
- Nerve Tissue Proteins -- genetics
- Pakistan
- Phenotype
- Polymorphism, Genetic -- genetics
- RNA, Messenger -- genetics
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Publication Type: Journal Article
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