Unraveling the effect of silent, intronic and missense mutations on
Alleles
Base Sequence
Blood Platelets
/ metabolism
Computational Biology
Exons
Female
Gene Frequency
Gene Silencing
Genotype
High-Throughput Nucleotide Sequencing
Humans
Introns
Leukocytes
/ metabolism
Male
Mutation, Missense
RNA Splice Sites
RNA Splicing
RNA, Messenger
/ genetics
von Willebrand Diseases
/ genetics
von Willebrand Factor
/ genetics
Journal
Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
03
08
2018
accepted:
19
10
2018
pubmed:
27
10
2018
medline:
12
5
2020
entrez:
27
10
2018
Statut:
ppublish
Résumé
Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on
Identifiants
pubmed: 30361419
pii: haematol.2018.203166
doi: 10.3324/haematol.2018.203166
pmc: PMC6395343
doi:
Substances chimiques
RNA Splice Sites
0
RNA, Messenger
0
von Willebrand Factor
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
587-598Informations de copyright
Copyright© 2019 Ferrata Storti Foundation.
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