ArticleTurkish journal of haematology : official journal of Turkish Society of Haematology2020
Article in Turkish journal of haematology : official journal of Turkish Society of Haematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Isolated A1-domainResearch and practice in thrombosis and haemostasis · 2026Article
- Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.Genes · 2024Article
- Comprehensive Screening of Genetic Variants in the Coding Region ofLife (Basel, Switzerland) · 2024Article
- Mutational Profile in Romanian Patients with Hemophilia A.International journal of molecular sciences · 2024Article
- Diagnosis, treatment, and research status of rare diseases related to birth defects.Intractable & rare diseases research · 2023Review
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- Management of haemophilia A with inhibitors: A regional cross-talk.Haemophilia : the official journal of the World Federation of Hemophilia · 2022Review
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- Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.Molecular genetics & genomic medicine · 2021Article
- Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.Clinical case reports · 2020Article
- Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the Materials and Methods: All HA cases (270 patients) analyzed molecularly in the Ege University Pediatric Genetics Molecular Laboratory between March 2017 and March 2018 were included in this study. To identify intron 22 inversion (Inv22), intron 1 inversion (Inv1), small deletion/insertions, and point mutations, molecular analyses of Results: The mutation detection success rate was 95.2%. Positive Inv22 was found in 106 patients (39.3%), Inv1 was found in 4 patients (1.5%), and 106 different disease-causing sequence variants were identified in 137 patients (50.6%). In 10 patients (3.7%), amplification failures involving one or more exonic regions, considered to be large intragenic deletions, were identified. Of 106 different Conclusion: A high mutation detection rate was achieved via the broad molecular techniques applied in this study, including 36 novel mutations. With regard to mutation types, mutation distribution and their impact on clinical severity and inhibitor development were found to be similar to those previously reported in other hemophilia population studies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.