Počet záznamov: 1
Bloomov syndróm
SYS d001816 LBL 00000cz--a2200000o--4500 005 20250606214455.6 008 920223|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.131.077.137 065 $a C16.320.798.313 065 $a C18.452.284.100 065 $a C20.673.795.313 066 $a 01 $c 03 150 $a Bloomov 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 $2 slo 450 $w v $a Bloom-Torre-Machacek Syndrome $2 eng 450 $w v $a Bloomov-Torreov-Machacekov syndróm $2 slo 450 $w v $a teleangiektasiae faciales $2 slo 550 $7 sllk_us_auth*d053484 $Y RecQ Helicases $w b $a RecQ helikázy 665 $a 82 $2 eng 665 $a Abnormalities, Multiple (1968-1981) $2 eng 665 $a Dwarfism (1966-1981) $2 eng 665 $a Facial Dermatoses (1966-1981) $2 eng 665 $a Telangiectasis (1966-1981) $2 eng 680 9-
$i An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. $2 eng 750 -2
$a Bloom Syndrome $2 eng 980 $x M
Počet záznamov: 1