Associated Papers
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.
Yan L et al.
Molecular Genetics & Genomic Medicine, 2024
FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.
Casini A et al.
Thrombosis Research, 2014
Congenital fibrinogen disorders: an update.
de Moerloose P et al.
Seminars in Thrombosis and Hemostasis, 2013
Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia.
Ding Q et al.
Thrombosis and Haemostasis, 2012
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