Associated Papers
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree.
Feng Y et al.
Genes, 2021
Use of plasma-derived factor X concentrate in neonates and infants with congenital factor X deficiency.
Zimowski KL et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E et al.
American Journal of Ophthalmology, 2013
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency.
Karimi M et al.
Haematologica, 2008
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