Počet záznamov: 1
Nijmegenský zlomový syndróm
SYS d049932 LBL 00000cx--j2200000---45-- 005 20240119200513.2 100 $a 20050630asloy0103----ba0 152 $b mesh 250 $a Nijmegenský zlomový syndróm $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 2006 $8 eng 330 1-
$a A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION. $8 eng 450 $a Nijmegenský syndróm lomivosti $5 e $8 slo 450 $a Seemanovej syndróm II $5 e $8 slo 450 $a Seemanovej syndróm, typ 2 $5 e $8 slo 686 $a C18.452.284.600 750 $a Nijmegen Breakage Syndrome $8 eng 801 -0
$a US $b DNLM $c 20050630 801 -2
$a SK $b BA006 $c 20060518 801 -2
$a SK $b BA006 $c 20110406 801 -0
$a SK $b BA006 $c 20110411 980 $x M
Počet záznamov: 1