Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
Griffith, Elen
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. [electronic resource] - Nature genetics Feb 2008 - 232-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1546-1718
10.1038/ng.2007.80 doi
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
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. [electronic resource] - Nature genetics Feb 2008 - 232-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1546-1718
10.1038/ng.2007.80 doi
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