Associated Papers
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.
Alzahrani FM et al.
Journal of Medicine and Life, 2023
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
The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.
Sutherland MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
Sutherland MS et al.
Blood, 2009
Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators.
Culpan D et al.
British Journal of Haematology, 1997
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