Factor Xi Deficiency
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Last Posted: Jun 12, 2024
- The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.
Ke Zhang, et al. Orphanet journal of rare diseases 2024 0 (1) 224 - Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families.
Dorgalaleh Akbar, et al. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2019 0 (8) 409-412 - Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations.
Zhang Donglei, et al. Thrombosis research 2020 0 100-102 - Congenital factor XI deficiency caused by a novel F11 missense variant: a case report.
Gotovac Jer?i? Kristina, et al. Croatian medical journal 2020 0 (1) 62-65 - Global epidemiology of factor XI deficiency: A targeted review of the literature and foundation reports.
Zhang Xinruo et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022 - CLINGEN Actionability Report for Factor XI Deficiency - F11
ClinGen Actionability Working Group - Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.
Salloum-Asfar Salam, et al. Thrombosis research 2018 1 64-70 - Exploring the global landscape of genetic variation in coagulation factor XI deficiency.
Asselta Rosanna, et al. Blood 2017 6 - Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.
Shao Yanyan, et al. Blood cells, molecules & diseases 2016 5 29-34 - Factor XI deficiency
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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