Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

A. de Haan, AM. van Eerde, M. Eijgelsheim, P. Rump, B. van der Zwaag, E. Hennekam, M. Živná, S. Kmoch, AJ. Bleyer, K. Kidd, L. Vogt, NVAM. Knoers, MH. de Borst

. 2023 ; 103 (5) : 986-989. [pub] 20230322

Language English Country United States

Document type Letter, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc23011536

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc23011536
003      
CZ-PrNML
005      
20230801133122.0
007      
ta
008      
230718s2023 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.kint.2023.02.021 $2 doi
035    __
$a (PubMed)37085259
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a de Haan, Amber $u Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
245    10
$a Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family / $c A. de Haan, AM. van Eerde, M. Eijgelsheim, P. Rump, B. van der Zwaag, E. Hennekam, M. Živná, S. Kmoch, AJ. Bleyer, K. Kidd, L. Vogt, NVAM. Knoers, MH. de Borst
650    _2
$a lidé $7 D006801
650    _2
$a vysoce účinné nukleotidové sekvenování $7 D059014
650    _2
$a nemoci ledvin $x genetika $7 D007674
650    12
$a mucin 1 $x genetika $7 D018396
650    _2
$a mutace $7 D009154
650    12
$a intersticiální nefritida $x diagnóza $x genetika $7 D009395
650    _2
$a rodokmen $7 D010375
655    _2
$a dopisy $7 D016422
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a van Eerde, Albertien M $u Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
700    1_
$a Eijgelsheim, Mark $u Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
700    1_
$a Rump, Patrick $u Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
700    1_
$a van der Zwaag, Bert $u Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
700    1_
$a Hennekam, Eric $u Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
700    1_
$a Živná, Martina $u Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic
700    1_
$a Kmoch, Stanislav $u Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
700    1_
$a Bleyer, Anthony J $u Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
700    1_
$a Kidd, Kendrah $u Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
700    1_
$a Vogt, Liffert $u Department of Internal Medicine, Section Nephrology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands
700    1_
$a Knoers, Nine V A M $u Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
700    1_
$a de Borst, Martin H $u Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: m.h.de.borst@umcg.nl
773    0_
$w MED00010141 $t Kidney international $x 1523-1755 $g Roč. 103, č. 5 (2023), s. 986-989
856    41
$u https://pubmed.ncbi.nlm.nih.gov/37085259 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20230718 $b ABA008
991    __
$a 20230801133119 $b ABA008
999    __
$a ok $b bmc $g 1963761 $s 1197801
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2023 $b 103 $c 5 $d 986-989 $e 20230322 $i 1523-1755 $m Kidney international $n Kidney Int $x MED00010141
LZP    __
$a Pubmed-20230718

Find record

Citation metrics

Archiving options