TY  - GEN
AU  - Griffith,Elen
AU  - Walker,Sarah
AU  - Martin,Carol-Anne
AU  - Vagnarelli,Paola
AU  - Stiff,Tom
AU  - Vernay,Bertrand
AU  - Al Sanna,Nouriya
AU  - Saggar,Anand
AU  - Hamel,Ben
AU  - Earnshaw,William C
AU  - Jeggo,Penny A
AU  - Jackson,Andrew P
AU  - O'Driscoll,Mark
TI  - Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
SN  - 1546-1718
PY  - 2008///0226
KW  - Amino Acid Sequence
KW  - Antigens
KW  - chemistry
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - Base Sequence
KW  - Case-Control Studies
KW  - Cell Cycle Proteins
KW  - genetics
KW  - Cell Line
KW  - Chromosomes, Human, Pair 22
KW  - Codon
KW  - Codon, Nonsense
KW  - Consanguinity
KW  - DNA Damage
KW  - Exons
KW  - Frameshift Mutation
KW  - Genes, Recessive
KW  - Genetic Linkage
KW  - Genome, Human
KW  - Homozygote
KW  - Humans
KW  - Lod Score
KW  - Lymphocytes
KW  - metabolism
KW  - Microcephaly
KW  - Models, Biological
KW  - Molecular Sequence Data
KW  - Molecular Weight
KW  - Mutagenesis, Insertional
KW  - Mutation
KW  - Oligonucleotide Array Sequence Analysis
KW  - Physical Chromosome Mapping
KW  - Polymorphism, Single Nucleotide
KW  - Protein Isoforms
KW  - Protein Serine-Threonine Kinases
KW  - Protein Structure, Tertiary
KW  - RNA Interference
KW  - RNA, Small Interfering
KW  - Sequence Analysis, DNA
KW  - Signal Transduction
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.2007.80
ER  -