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Novel F8 and F9 gen...
Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines
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- Andersson, Nadine G (author)
- Lund University,Lunds universitet,Pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatric Haematology Research Unit,Lund University Research Groups,Skåne University Hospital
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- Labarque, Veerle (author)
- University Hospitals Leuven
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- Letelier, Anna (author)
- Lund University,Lunds universitet,Pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatric Haematology Research Unit,Lund University Research Groups
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- Mancuso, Maria Elisa (author)
- Maggiore Hospital Policlinico
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- Bührlen, Martina (author)
- Klinikum Bremen-Mitte
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- Fischer, Kathelijn (author)
- University Medical Center Utrecht
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- Kartal-Kaess, Mutlu (author)
- University of Bern
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- Koskenvuo, Minna (author)
- Helsinki University Central Hospital
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- Mikkelsen, Torben (author)
- Aarhus University Hospital
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- Ljung, Rolf (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Paediatric Haematology Research Unit,Lund University Research Groups
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(creator_code:org_t)
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- 2020-10-14
- 2020
- English 15 s.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 41:12, s. 2058-2072
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Abstract
Subject headings
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- In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier- and prenatal diagnosis and prediction of risk for development of inhibitors. The PedNet Registry collects clinical, genetic and phenotypic data prospectively on >2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to HGVS nomenclature and re-evaluated using international population- and disease-specific databases, literature survey and, where applicable, computational predictive programs. We report 88 novel variants in the F8 and F9 genes, 80 fulfilling criteria for class 5 (pathogenic), six for class 4 (likely pathogenic) and two fulfilling criteria for class 3 (variant of unknown significance) of the ACMG (American College of Medical Genetics and Genomics)/AMP (Association for Molecular Pathology) guidelines together with information on the respective phenotype and inhibitor formation. The study highlights the need to re-evaluate and update earlier genetic reports in hemophilia both locally but also in variant databases in the light of changed nomenclature and new guidelines. This article is protected by copyright. All rights reserved.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Andersson, Nadin ...
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Labarque, Veerle
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Letelier, Anna
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Mancuso, Maria E ...
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Bührlen, Martina
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Fischer, Katheli ...
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show more...
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Kartal-Kaess, Mu ...
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Koskenvuo, Minna
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Mikkelsen, Torbe ...
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Ljung, Rolf
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Human Mutation
- By the university
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Lund University