RASA1
capillary malformation-arteriovenous malformation
mosaic mutation
second hit
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
19
01
2019
revised:
11
06
2019
accepted:
18
06
2019
pubmed:
14
7
2019
medline:
11
6
2020
entrez:
14
7
2019
Statut:
ppublish
Résumé
Capillary malformation-arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and increased risk of fast-flow vascular malformations, caused by loss-of-function mutations in the DNA was extracted from peripheral blood lymphocytes, saliva or vascular malformation tissues from four patients. Four distinct mosaic This study shows that
Sections du résumé
BACKGROUND
Capillary malformation-arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and increased risk of fast-flow vascular malformations, caused by loss-of-function mutations in the
METHODS
DNA was extracted from peripheral blood lymphocytes, saliva or vascular malformation tissues from four patients.
RESULTS
Four distinct mosaic
CONCLUSION
This study shows that
Identifiants
pubmed: 31300548
pii: jmedgenet-2019-106024
doi: 10.1136/jmedgenet-2019-106024
doi:
Substances chimiques
RASA1 protein, human
0
p120 GTPase Activating Protein
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
48-52Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.