Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of
Journal
BioMed research international
ISSN: 2314-6141
Titre abrégé: Biomed Res Int
Pays: United States
ID NLM: 101600173
Informations de publication
Date de publication:
2021
2021
Historique:
received:
27
07
2021
revised:
05
09
2021
accepted:
11
09
2021
entrez:
5
10
2021
pubmed:
6
10
2021
medline:
13
1
2022
Statut:
epublish
Résumé
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome-related organelles, such as melanosomes and platelet-dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diathesis. A small number of patients will present with granulomatous colitis or fatal pulmonary fibrosis. At present, mutations in ten known genetic loci (
Identifiants
pubmed: 34608437
doi: 10.1155/2021/4535349
pmc: PMC8487392
doi:
Substances chimiques
HPS3 protein, human
0
Intracellular Signaling Peptides and Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
4535349Informations de copyright
Copyright © 2021 Zhao-Xia Wang et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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