-
Je něco špatně v tomto záznamu ?
Demystification of Chester porphyria: a nonsense mutation in the porphobilinogen deaminase gene
P. Poblete-Gutiérrez, T. Wiederholt, A. Martinez-Mir, H. F. Merk, J. M. Connor, A. M. Christiano, J. Frank
Jazyk angličtina Země Česko
Typ dokumentu abstrakt z konference
NLK
Directory of Open Access Journals
od 1991
Free Medical Journals
od 1998
ROAD: Directory of Open Access Scholarly Resources
od 1998
- Publikační typ
- abstrakt z konference MeSH
Department of Dermatology and Allergology University Clinic of the RWTH Aachen Aachen Germany
Department of Dermatology and Genetics and Development Columbia University New York USA
- 000
- 00000naa a2200000 a 4500
- 001
- bmc20000523
- 003
- CZ-PrNML
- 005
- 20200401191331.0
- 007
- ta
- 008
- 200331s2003 xr f 00 0|eng||
- 009
- PC
- 040 __
- $a ABA008 $d ABA008 $e AACR2 $b cze
- 041 0_
- $a eng
- 044 __
- $a xr
- 100 1_
- $a Poblete-Gutiérrez, P. $u Department of Dermatology and Allergology and Porphyria Center and Interdisciplinary Center for Clinical Research, University Clinic of the RWTH Aachen, Aachen, Germany
- 245 10
- $a Demystification of Chester porphyria: a nonsense mutation in the porphobilinogen deaminase gene / $c P. Poblete-Gutiérrez, T. Wiederholt, A. Martinez-Mir, H. F. Merk, J. M. Connor, A. M. Christiano, J. Frank
- 655 _2
- $a abstrakt z konference $7 D016416
- 700 1_
- $a Wiederholt, T. $u Department of Dermatology and Allergology and Porphyria Center and Interdisciplinary Center for Clinical Research, University Clinic of the RWTH Aachen, Aachen, Germany
- 700 1_
- $a Martinez-Mir, A. $u Department of Dermatology, Columbia University, New York, USA
- 700 1_
- $a Merk, H. F. $u Department of Dermatology and Allergology, University Clinic of the RWTH Aachen, Aachen, Germany
- 700 1_
- $a Connor, J. M. $u Duncan Guthrie Institute of Medical Genetics, Glasgow, UK
- 700 1_
- $a Christiano, A. M. $u Department of Dermatology and Genetics and Development, Columbia University, New York, USA
- 700 1_
- $a Frank, J. $u Department of Dermatology and Allergology and Porphyria Center, University Clinic of the RWTH Aachen, Aachen, Germany
- 773 0_
- $t Physiological research. Proceedings of the meeting "Porphyrins & pophyrias 2003", Prague, September 21-24, 2003 $x 0862-8408 $g Roč. 52, č. Abstract Book (2003), s. 21S $w MED00003824
- 773 0_
- $t Proceedings of the meeting "Porphyrins & pophyrias 2003" $g (2003), s. 21S $w MED00118379
- 910 __
- $a ABA008 $b A 4120/52-Abstr.-2003 $c 266 $y p $z 0
- 990 __
- $a 20200327111634 $b ABA008
- 991 __
- $a 20200401191808 $b ABA008
- 999 __
- $a ok $b bmc $g 1507851 $s 1090488
- BAS __
- $a 6
- BMC __
- $a 2003 $b 52 $c Abstract Book $d 21S $i 0862-8408 $m Physiological research $o Proceedings of the meeting "Porphyrins & pophyrias 2003", Prague, September 21-24, 2003 $x MED00003824
- BMC __
- $a 2003 $d 21S $m Proceedings of the meeting "Porphyrins & pophyrias 2003" $x MED00118379
- LZP __
- $a NLK 2020-18/kvbi