Trigenic
ADH5/ALDH/ADGRV1 variants
Myelodysplastic syndrome
Trigenic mutations
Trio-next generation sequencing
Usher syndrome
Journal
Heliyon
ISSN: 2405-8440
Titre abrégé: Heliyon
Pays: England
ID NLM: 101672560
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
19
05
2021
revised:
19
07
2021
accepted:
12
08
2021
entrez:
30
8
2021
pubmed:
31
8
2021
medline:
31
8
2021
Statut:
epublish
Résumé
Trio-next generation sequencing is useful to identify undiagnosed inherited diseases. We have attended a patient with trigenic
Identifiants
pubmed: 34458631
doi: 10.1016/j.heliyon.2021.e07804
pii: S2405-8440(21)01907-1
pmc: PMC8379464
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e07804Informations de copyright
© 2021 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
N Engl J Med. 2020 Oct 1;383(14):1358-1374
pubmed: 32997910
Biochem J. 2008 Aug 1;413(3):493-504
pubmed: 18412547
Lab Anim Sci. 1972 Oct;22(5):728-30
pubmed: 4343331
Am J Med Genet. 1999 Sep 24;89(3):158-66
pubmed: 10704190
Clin Genet. 1997 May;51(5):314-21
pubmed: 9212179
Clin Genet. 2021 Feb;99(2):226-235
pubmed: 33089500
J Biol Chem. 1974 Dec 10;249(23):7653-63
pubmed: 4373474
Expert Opin Drug Metab Toxicol. 2008 Jun;4(6):697-720
pubmed: 18611112
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Am J Hum Genet. 2018 Aug 2;103(2):171-187
pubmed: 30032986
Br J Ophthalmol. 1983 Jul;67(7):449-54
pubmed: 6860611
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Chem Biol Interact. 2009 Mar 16;178(1-3):29-35
pubmed: 19038239
J Speech Hear Res. 1969 Sep;12(3):541-63
pubmed: 4900022
J Chronic Dis. 1983;36(8):595-603
pubmed: 6885960
Chem Biol Interact. 2001 Jan 30;130-132(1-3):285-96
pubmed: 11306052
Bioinformatics. 2015 May 15;31(10):1599-606
pubmed: 25573915
Am J Hum Genet. 2004 Feb;74(2):357-66
pubmed: 14740321
Drug Metab Dispos. 2002 Jan;30(1):69-73
pubmed: 11744614
Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8
pubmed: 17360538
PLoS Genet. 2010 May 20;6(5):e1000955
pubmed: 20502675
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Bioinformatics. 2014 Aug 1;30(15):2114-20
pubmed: 24695404
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Bioinformatics. 2015 Aug 15;31(16):2745-7
pubmed: 25851949
PLoS Genet. 2016 Jan 07;12(1):e1005679
pubmed: 26741492
J Neurosci. 2006 Jun 14;26(24):6543-53
pubmed: 16775142
Genet Med. 2010 Aug;12(8):512-6
pubmed: 20613545
BMC Med Genet. 2018 Jun 11;19(1):99
pubmed: 29890953
Doc Ophthalmol. 2015 Feb;130(1):1-12
pubmed: 25502644
Br J Ophthalmol. 1997 Jan;81(1):46-53
pubmed: 9135408
Biochem Soc Trans. 2002 Aug;30(4):473-9
pubmed: 12196118
Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43
pubmed: 15671307
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Clin Genet. 2018 Apr;93(4):812-821
pubmed: 29112224
Chem Biol Interact. 2009 Mar 16;178(1-3):36-9
pubmed: 18983993
Community Genet. 1998;1(4):223-8
pubmed: 15178965
Biochim Biophys Acta. 2015 Mar;1852(3):406-20
pubmed: 25481835
Clin Genet. 1991 Oct;40(4):304-11
pubmed: 1756603
Biochemistry. 2000 Sep 5;39(35):10720-9
pubmed: 10978156
Sci Adv. 2020 Dec 18;6(51):
pubmed: 33355142
Mol Cell. 2020 Dec 17;80(6):996-1012.e9
pubmed: 33147438
Mutat Res. 2009 Jul 31;668(1-2):4-10
pubmed: 19622403