Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. [electronic resource]
Producer: 20080226Description: 232-6 p. digitalISSN:- 1546-1718
- Amino Acid Sequence
- Antigens -- chemistry
- Ataxia Telangiectasia Mutated Proteins
- Base Sequence
- Case-Control Studies
- Cell Cycle Proteins -- genetics
- Cell Line
- Chromosomes, Human, Pair 22
- Codon
- Codon, Nonsense
- Consanguinity
- DNA Damage
- Exons
- Frameshift Mutation
- Genes, Recessive
- Genetic Linkage
- Genome, Human
- Homozygote
- Humans
- Lod Score
- Lymphocytes -- metabolism
- Microcephaly -- genetics
- Models, Biological
- Molecular Sequence Data
- Molecular Weight
- Mutagenesis, Insertional
- Mutation
- Oligonucleotide Array Sequence Analysis
- Physical Chromosome Mapping
- Polymorphism, Single Nucleotide
- Protein Isoforms -- chemistry
- Protein Serine-Threonine Kinases -- genetics
- Protein Structure, Tertiary
- RNA Interference
- RNA, Small Interfering -- metabolism
- Sequence Analysis, DNA
- Signal Transduction -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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