Analysis of
Adolescent
Alleles
Child
Child, Preschool
Cystic Fibrosis
/ epidemiology
Cystic Fibrosis Transmembrane Conductance Regulator
/ genetics
DNA Copy Number Variations
/ genetics
Ethnicity
/ genetics
Female
Gene Frequency
Genetics, Population
Humans
Infant
Male
Mutation
/ genetics
Russia
/ epidemiology
Young Adult
CFTR gene
common and new pathogenic variants
cystic fibrosis
ethnic Russian population
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
15 05 2020
15 05 2020
Historique:
received:
30
03
2020
revised:
08
05
2020
accepted:
13
05
2020
entrez:
21
5
2020
pubmed:
21
5
2020
medline:
17
3
2021
Statut:
epublish
Résumé
The distribution and frequency of the
Identifiants
pubmed: 32429104
pii: genes11050554
doi: 10.3390/genes11050554
pmc: PMC7288340
pii:
doi:
Substances chimiques
CFTR protein, human
0
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
J Mol Diagn. 2007 Sep;9(4):556-60
pubmed: 17690208
Genetika. 2012 Jul;48(7):863-71
pubmed: 22988772
Hum Mutat. 2002 Jun;19(6):575-606
pubmed: 12007216
Pediatr Clin North Am. 2016 Aug;63(4):585-98
pubmed: 27469177
Presse Med. 2017 Jun;46(6 Pt 2):e97-e108
pubmed: 28576637
J Cyst Fibros. 2008 May;7(3):179-96
pubmed: 18456578
J Pediatr. 2017 Feb;181S:S33-S44.e2
pubmed: 28129810
BMC Med Genet. 2019 Mar 21;20(1):44
pubmed: 30898088
J Cyst Fibros. 2019 Jul;18(4):468-475
pubmed: 30389601
Hum Mol Genet. 2003 Sep 15;12(18):2321-32
pubmed: 12952861
Genetika. 2002 Sep;38(9):1270-5
pubmed: 12391889
Clin Genet. 2019 Mar;95(3):444-447
pubmed: 30548586
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Hum Genet. 2000 Mar;106(3):259-68
pubmed: 10798353
J Cyst Fibros. 2018 Mar;17(2):153-178
pubmed: 29506920
J Cyst Fibros. 2016 May;15(3):e28-32
pubmed: 26948992
Hum Mutat. 1995;5(3):205-9
pubmed: 7541273