TY  - GEN
AU  - Seemanová,E
AU  - Sperling,K
AU  - Neitzel,H
AU  - Varon,R
AU  - Hadac,J
AU  - Butova,O
AU  - Schröck,E
AU  - Seeman,P
AU  - Digweed,M
TI  - Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
SN  - 1468-6244
PY  - 2006///0809
KW  - Amino Acid Substitution
KW  - Cell Cycle Proteins
KW  - genetics
KW  - Chromosomal Instability
KW  - Chromosome Mapping
KW  - Czech Republic
KW  - Diseases in Twins
KW  - Genes, Recessive
KW  - Humans
KW  - Microcephaly
KW  - Mutation
KW  - Nijmegen Breakage Syndrome
KW  - Nuclear Proteins
KW  - Phosphorylation
KW  - Polymerase Chain Reaction
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2005.035287
ER  -