Factor X Deficiency
Last Posted: Sep 20, 2021
- Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis.
Osaki Tsukasa, et al. PloS one 2021 0 (9) e0257322
- 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
- Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects.
Guéant-Rodriguez R M, et al. Clinical genetics 2017 7
- Exploring the global landscape of genetic variation in coagulation factor XI deficiency.
Asselta Rosanna, et al. Blood 2017 6
- F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study.
Quintavalle Gabriele, et al. Thrombosis and haemostasis 2017 4
- [Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency].
Peng Wei, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 6 (3) 357-60
- 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
- Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology.
Pfeiffer Caroline, et al. Thrombosis research 2016 2 22-27
- Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.
Shanbhag Sharda, et al. Blood cells, molecules & diseases 2016 3 81-4
- Central nervous system bleeding in pediatric patients with factor XIII deficiency: a study on 23 new cases.
Naderi Majid, et al. Hematology (Amsterdam, Netherlands) 2015 3 (2) 112-8
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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