The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study.
Bioinformatics
Biophysics
Computational chemistry
Condensed matter physics
Homology modeling
MCAHS2
Missense mutations
Molecular dynamics simulation
PIGA
PNH
Theoretical chemistry
Journal
Heliyon
ISSN: 2405-8440
Titre abrégé: Heliyon
Pays: England
ID NLM: 101672560
Informations de publication
Date de publication:
Oct 2019
Oct 2019
Historique:
received:
18
11
2018
revised:
12
08
2019
accepted:
17
10
2019
entrez:
6
11
2019
pubmed:
7
11
2019
medline:
7
11
2019
Statut:
epublish
Résumé
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal blood disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The disease is caused by the deficiency of two glycosylphosphatidylinositols (GPI)-anchored proteins (CD55 and CD59) in the hemopoietic stem cells. The deficiency of GPI-anchored proteins has been associated with the somatic mutations in phosphatidylinositol glycan class A (
Identifiants
pubmed: 31687525
doi: 10.1016/j.heliyon.2019.e02709
pii: S2405-8440(19)36369-8
pii: e02709
pmc: PMC6820265
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e02709Informations de copyright
© 2019 The Authors. Published by Elsevier Ltd.
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