Screening of
Adult
BRCA1 Protein
/ genetics
BRCA2 Protein
/ genetics
Breast Neoplasms, Male
/ genetics
Case-Control Studies
Computer Simulation
Exons
Female
Gene Expression Regulation
Gene Frequency
Genetic Testing
Germ-Line Mutation
Hereditary Breast and Ovarian Cancer Syndrome
/ genetics
Humans
Introns
Male
RNA Splicing
RNA, Messenger
/ genetics
Brca1/2
deep intronic regions
hereditary breast and ovarian cancer
pseudoexon
splicing
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
12
07
2018
revised:
16
10
2018
accepted:
28
10
2018
pubmed:
26
11
2018
medline:
19
5
2020
entrez:
26
11
2018
Statut:
ppublish
Résumé
Genetic analysis of We analysed A novel transcript was detected in Screening of
Sections du résumé
BACKGROUND
Genetic analysis of
METHODS
We analysed
RESULTS
A novel transcript was detected in
CONCLUSION
Screening of
Identifiants
pubmed: 30472649
pii: jmedgenet-2018-105606
doi: 10.1136/jmedgenet-2018-105606
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
RNA, Messenger
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
63-74Informations de copyright
© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.