-
Something wrong with this record ?
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic
L. Kopečková, H. Bučková, J. Kýrová, R. Gaillyová, J. Němečková, B. Jeřábková, K. Veselý, K. Stehlíková, L. Fajkusová,
Language English Country England, Great Britain
Document type Letter
Grant support
NT14585
MZ0
CEP Register
PubMed
26707537
DOI
10.1111/bjd.14370
Knihovny.cz E-resources
- MeSH
- DNA genetics MeSH
- Adult MeSH
- Epidermolysis Bullosa diagnosis genetics MeSH
- Exons genetics MeSH
- Phenotype MeSH
- Genes genetics MeSH
- Heterozygote MeSH
- Homozygote MeSH
- Inteins genetics MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mutation genetics MeSH
- Proteins genetics MeSH
- Sequence Analysis, DNA methods MeSH
- RNA Splicing MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Publication type
- Letter MeSH
- Geographicals
- Czech Republic MeSH
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc17024198
- 003
- CZ-PrNML
- 005
- 20190826091225.0
- 007
- ta
- 008
- 170720s2016 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1111/bjd.14370 $2 doi
- 035 __
- $a (PubMed)26707537
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a Kopečková, Lenka $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic. $7 xx0239996
- 245 10
- $a Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic / $c L. Kopečková, H. Bučková, J. Kýrová, R. Gaillyová, J. Němečková, B. Jeřábková, K. Veselý, K. Stehlíková, L. Fajkusová,
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a Česká republika $7 D018153
- 650 _2
- $a DNA $x genetika $7 D004247
- 650 _2
- $a epidermolysis bullosa $x diagnóza $x genetika $7 D004820
- 650 _2
- $a exony $x genetika $7 D005091
- 650 _2
- $a geny $x genetika $7 D005796
- 650 _2
- $a heterozygot $7 D006579
- 650 _2
- $a homozygot $7 D006720
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a inteiny $x genetika $7 D047668
- 650 _2
- $a mutace $x genetika $7 D009154
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a proteiny $x genetika $7 D011506
- 650 _2
- $a sestřih RNA $7 D012326
- 650 _2
- $a sekvenční analýza DNA $x metody $7 D017422
- 650 _2
- $a mladý dospělý $7 D055815
- 655 _2
- $a dopisy $7 D016422
- 700 1_
- $a Bučková, Hana, $u Department of Pediatric Dermatology, Pediatric Clinic, University Hospital Brno and Masaryk University, Brno, Czech Republic. $d 1952- $7 jn20010309695
- 700 1_
- $a Kýrová, Jana $u Department of Pediatric Dermatology, Pediatric Clinic, University Hospital Brno and Masaryk University, Brno, Czech Republic. $7 xx0250401
- 700 1_
- $a Gaillyová, Renata, $u Department of Medical Genetics, University Hospital Brno and Masaryk University, Brno, Czech Republic. $d 1957- $7 jo20010084782
- 700 1_
- $a Němečková, Jitka $u Department of Medical Genetics, University Hospital Brno and Masaryk University, Brno, Czech Republic. Department of Public Health, Faculty of Medicine, University Hospital Brno and Masaryk University, Brno, Czech Republic. $7 _AN074749
- 700 1_
- $a Jeřábková, Barbora $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic. $7 xx0121839
- 700 1_
- $a Veselý, Karel $u First Department of Pathological Anatomy, Faculty of Medicine, Masaryk University and St. Anne's University Hospital, Brno, Czech Republic. $7 xx0060572
- 700 1_
- $a Stehlíková, Kristýna $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic. $7 xx0142047
- 700 1_
- $a Fajkusová, Lenka, $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic. Laboratory of Functional Genomics and Proteomics, NCBR, Faculty of Science, Masaryk University, Brno, Czech Republic. Central European Institute of Technology, Masaryk University, Brno, Czech Republic. $d 1963- $7 xx0062747
- 773 0_
- $w MED00009371 $t The British journal of dermatology $x 1365-2133 $g Roč. 174, č. 6 (2016), s. 1388-1391
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/26707537 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20170720 $b ABA008
- 991 __
- $a 20190826091443 $b ABA008
- 999 __
- $a ok $b bmc $g 1239879 $s 985111
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2016 $b 174 $c 6 $d 1388-1391 $e 20160301 $i 1365-2133 $m British journal of dermatology $n Br J Dermatol $x MED00009371
- GRA __
- $a NT14585 $p MZ0
- LZP __
- $a Pubmed-20170720