Compound heterozygous variants in the
Disease genetics
Dyslipidaemias
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
2020
2020
Historique:
received:
11
04
2020
revised:
03
08
2020
accepted:
15
08
2020
entrez:
5
10
2020
pubmed:
6
10
2020
medline:
6
10
2020
Statut:
epublish
Résumé
Sitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and accelerated atherosclerosis. In this study, we report a novel nonsense single-nucleotide variant, c.225G > A (p.Trp75*), and an East Asian population-specific missense multiple-nucleotide variant, c.1256_1257delTCinsAA (p.Ile419Lys), in the
Identifiants
pubmed: 33014402
doi: 10.1038/s41439-020-00112-y
pii: 112
pmc: PMC7490419
doi:
Types de publication
Journal Article
Langues
eng
Pagination
25Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Conflict of interestThe authors declare that they have no conflict of interest.
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