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Gene symbol: ARSA. Disease: metachromatic leukodystrophy
Berna L, Gieselmann V, Poupetova H, Hrebicek M, Elleder M, Ledvinova J.
Human genetics.
2005 ;
118 (3-4) :
537.
Language English Country Germany
Persistent link
https://www.medvik.cz/link/bmc07520332
Online
NLK
ProQuest Central
from 2000-01-01 to 1 year ago
Medline Complete (EBSCOhost)
from 2000-01-01 to 1 year ago
Health & Medicine (ProQuest)
from 2000-01-01 to 1 year ago
Public Health Database (ProQuest)
from 2000-01-01 to 2017-12-31
- MeSH
- Cerebroside-Sulfatase genetics MeSH
- Humans MeSH
- Leukodystrophy, Metachromatic genetics MeSH
- Mutation, Missense MeSH
- DNA Mutational Analysis MeSH
- Codon, Nonsense MeSH
- Amino Acid Substitution MeSH
- Check Tag
- Humans MeSH
- 000
- 00000naa 2200000 a 4500
- 001
- bmc07520332
- 003
- CZ-PrNML
- 005
- 20111210131100.0
- 008
- 090331s2005 gw e eng||
- 009
- AR
- 040 __
- $a ABA008 $b cze $c ABA008 $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a gw
- 100 1_
- $a Berná, Linda. $7 xx0035092
- 245 10
- $a Gene symbol: ARSA. Disease: metachromatic leukodystrophy / $c Berna L, Gieselmann V, Poupetova H, Hrebicek M, Elleder M, Ledvinova J.
- 314 __
- $a Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic. lindaberna@yahoo.com
- 650 _2
- $a substituce aminokyselin $7 D019943
- 650 _2
- $a cerebrosidsulfatasa $x genetika $7 D002553
- 650 _2
- $a nesmyslný kodon $7 D018389
- 650 _2
- $a mutační analýza DNA $7 D004252
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a metachromatická leukodystrofie $x genetika $7 D007966
- 650 _2
- $a missense mutace $7 D020125
- 700 1_
- $a Gieselmann, Volkmar $7 xx0126512
- 700 1_
- $a Poupětová, Helena, $d 1956- $7 jo2003181497
- 700 1_
- $a Hřebíček, Martin, $7 xx0077429 $d 1961-
- 700 1_
- $a Elleder, M.
- 700 1_
- $a Ledvinová, Jana, $d 1943- $7 jo2003163160
- 773 0_
- $w MED00002074 $t Human genetics $g Roč. 118, č. 3-4 (2005), s. 537 $x 0340-6717
- 910 __
- $a ABA008 $b x $y 9
- 990 __
- $a 20090325104238 $b ABA008
- 991 __
- $a 20111005112509 $b ABA008
- 999 __
- $a ok $b bmc $g 638135 $s 490934
- BAS __
- $a 3
- BMC __
- $a 2005 $b 118 $c 3-4 $d 537 $i 0340-6717 $m Human genetics $x MED00002074
- LZP __
- $a 2009-B1/dkme
