Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland
Haemophilia
.
2019 Jul;25(4):e311-e314.
doi: 10.1111/hae.13784.
Epub 2019 May 27.
Authors
Szymon Janczar
1
,
Katarzyna Babol-Pokora
1
,
Izabela Jatczak-Pawlik
1
,
Kamila Wypyszczak
1
,
Anna Klukowska
2
,
Pawel Laguna
2
,
Magdalena Kostrzewska
1
,
Olga Wegner
1
,
Jaroslaw Zielinski
1
,
Andrzej Koltan
3
,
Halina Bobrowska
4
,
Irena Woznica-Karczmarz
5
,
Lucja Dakowicz
6
,
Marek Wlazlowski
7
,
Iwona Ruranska
8
,
Grzegorz Dobaczewski
9
,
Monika Radwanska
10
,
Grazyna Karolczyk
11
,
Danuta Pietrys
12
,
Walentyna Balwierz
12
13
,
Tomasz Szczepański
8
,
Tomasz Urasiński
14
,
Rafal Ploski
15
,
Wojciech Mlynarski
1
Affiliations
1
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
2
Department of Paediatrics, Hematology and Oncology, Warsaw Medical University, Warsaw, Poland.
3
Department of Paediatrics, Haematology and Oncology, Nicolaus Copernicus University in Torun, Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
4
Department of Pediatrics and Hematology, Children Hospital Poznan, Poznan, Poland.
5
Department of Transfusion Medicine, Children's University Hospital, Lublin, Poland.
6
Department of Pediatric Oncology and Hematology, University Children's Hospital, Medical University of Bialystok, Bialystok, Poland.
7
Department of Pediatrics, Hematology, Oncology, Medical University of Gdansk, Gdansk, Poland.
8
Department of Pediatric Hematology and Oncology, Medical University of Silesia, Katowice, Poland.
9
Department of Paediatric Bone Marrow Transplantation, Oncology and Haematology, Wroclaw Medical University, Wroclaw, Poland.
10
Department of Pediatric Oncology and Hematology, Clinical Hospital No. 2, Rzeszow, Poland.
11
Oncology and Hematology Unit, Regional Hospital, Kielce, Poland.
12
Department of Pediatric Oncology and Hematology, University Childrens' Hospital of Krakow, Krakow, Poland.
13
Institute of Pediatrics, Jagiellonian University -Medical College, Krakow, Poland.
14
Department of Pediatrics, Hemato-Oncology and Gastroenterology, Pomeranian Medical University, Szczecin, Poland.
15
Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
PMID:
31134694
DOI:
10.1111/hae.13784
No abstract available
Publication types
Letter
MeSH terms
Child
Factor VIII / genetics*
Hemophilia A / etiology
Hemophilia A / genetics*
Humans
Male
Point Mutation*
Poland
Substances
Factor VIII
Grants and funding
WI216682/Pfizer