Anna Letelier
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- 2024
-
Mark
Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B
Mårtensson, Annika LU ; Letelier, Anna LU ; Manderstedt, Eric LU ; Glosli, Heidi and Ljung, Rolf LU
(2024)
In Haemophilia
30(3).
p.774-779
- Contribution to journal › Article
- 2022
-
Mark
Silent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A
Letelier, Anna LU ; Ljung, Rolf LU
; Olsson, Anna
and Andersson, Nadine G
LU
(2022)
In Molecular Genetics & Genomic Medicine
10(1).
- Contribution to journal › Article
- 2020
-
Mark
Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines
Andersson, Nadine G LU ; Labarque, Veerle ; Letelier, Anna LU ; Mancuso, Maria Elisa ; Bührlen, Martina ; Fischer, Kathelijn ; Kartal-Kaess, Mutlu ; Koskenvuo, Minna ; Mikkelsen, Torben and Ljung, Rolf LU
(2020)
In Human Mutation
41(12).
p.2058-2072
- Contribution to journal › Article