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expanzia trinukleotidových repetícií
SYS d019680 LBL 00000cz--a2200000o--4500 005 20250606214243.3 008 970620|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a G02.111.570.080.708.800.140.865 065 $a G02.111.570.080.708.800.500.850.200 065 $a G05.360.080.708.800.074.865 065 $a G05.360.080.708.800.500.850.200 065 $a G05.360.340.024.189.220.865 065 $a G05.360.340.024.850.500.850.200 065 $a G05.365.590.220.865 065 $a G05.558.220.865 066 $a 01 $c 03 150 $a expanzia trinukleotidových repetícií $x DE $x ES $x GE $x IM $x PH $x RE $2 slo 450 $w v $a zvýšenie počtu trinukleotidových repetícií $2 slo 550 $7 sllk_us_auth*d002873 $Y Chromosome Fragility $w b $a fragilita chromozómov 550 $7 sllk_us_auth*d005600 $Y Fragile X Syndrome $w b $a syndróm fragilného chromozómu X 550 $7 sllk_us_auth*d009223 $Y Myotonic Dystrophy $w b $a dystrofia myotonická 550 $7 sllk_us_auth*d002873 $Y Chromosome Fragility $w p $a fragilita chromozómov 550 $7 sllk_us_auth*d005600 $Y Fragile X Syndrome $w p $a syndróm fragilného chromozómu X 550 $7 sllk_us_auth*d009223 $Y Myotonic Dystrophy $w p $a dystrofia myotonická 550 $7 sllk_us_auth*d020132 $Y Anticipation, Genetic $w p $a anticipácia genetická 550 $7 sllk_us_auth*d043283 $Y Chromosome Fragile Sites $w p $a miesta chromozómov fragilné 550 $7 sllk_us_auth*d020132 $Y Anticipation, Genetic $w b $a anticipácia genetická 665 $a 99(98) $2 eng 665 $a Repetitive Sequences, Nucleic Acid (1981-1997) $2 eng 680 9-
$i An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. $2 eng 750 -2
$a Trinucleotide Repeat Expansion $2 eng 980 $x M
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