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syndrómy trichotiodystrofie
SYS d054463 LBL 00000nx--j2200000---45-- 005 20250201155457.4 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a syndrómy trichotiodystrofie $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 2008 $8 eng 300 1-
$a Hair Diseases (1980-2007) $8 eng 330 1-
$a Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. $8 eng 450 $a trichotiodystrofia $5 e $8 slo 550 $3 sllk_un_auth*d051759 $Y Xeroderma Pigmentosum Group D Protein $5 F $a proteín xeroderma pigmentosum skupiny D 686 $a C16.131.077.899 686 $a C16.131.831.874 686 $a C16.320.850.895 686 $a C17.800.804.874 686 $a C17.800.827.895 750 $a Trichothiodystrophy Syndromes $8 eng 801 -0
$a SK $b BA006 $c 20080318 980 $x M
Počet záznamov: 1