von Willebrand disease, molecular biology and diagnosis

Hernández-Zamora, Edgar; Zavala-Hernández, César; Quintana-González, Sandra; Reyes‐Maldonado, Elba

doi:10.1016/j.circen.2015.09.024

Cited by 2 publications

(3 citation statements)

References 45 publications

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“…rs1800386 has been associated with the type 1 VWD phenotype as reported in previous studies [48][49][50][51]. As a future perspective, it is important to evaluate the multimer pattern to discard a type 2A VWD and confirm that the variation behaves as in the European and North American population as the cause of a type 1 VWD [48][49][50][51]. Patient Af3VW presents four variations in exons 19 and 25 (c.2479T > A, c.2482C > A, c.3291C > G, and c.3350T > G).…”

Section: Genetic Analysis Of Vwf Genesupporting

confidence: 54%

“…This variation is a known disease variation (HGM CM031758). rs1800386 has been associated with the type 1 VWD phenotype as reported in previous studies [48][49][50][51]. As a future perspective, it is important to evaluate the multimer pattern to discard a type 2A VWD and confirm that the variation behaves as in the European and North American population as the cause of a type 1 VWD [48][49][50][51].…”

Section: Genetic Analysis Of Vwf Genementioning

confidence: 56%

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Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia

Lago

Groot

Navas

et al. 2021

Genes

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Inherited bleeding disorders (IBDs) are the most frequent congenital diseases in the Colombian population; three of them are hemophilia A (HA), hemophilia B (HB), and von Willebrand Disease (VWD). Currently, diagnosis relies on multiple clinical laboratory assays to assign a phenotype. Due to the lack of accessibility to these tests, patients can receive an incomplete diagnosis. In these cases, genetic studies reinforce the clinical diagnosis. The present study characterized the molecular genetic basis of 11 HA, three HB, and five VWD patients by sequencing the F8, F9, or the VWF gene. Twelve variations were found in HA patients, four in HB patients, and 19 in WVD patients. From these variations a total of 25 novel variations were found. Disease-causing variations were used as positive controls for validation of the high-resolution melting (HRM) variant-scanning technique. This approach is a low-cost genetic diagnostic method proposed to be incorporated in developing countries. For the data analysis, we developed an accessible open-source code in Python that improves HRM data analysis with better sensitivity of 95% and without bias when using different HRM equipment and software. Analysis of amplicons with a length greater than 300 bp can be performed by implementing an analysis by denaturation domains.

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Section: Genetic Analysis Of Vwf Genesupporting

confidence: 54%

Section: Genetic Analysis Of Vwf Genementioning

confidence: 56%

Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia

Lago

Groot

Navas

et al. 2021

Genes

View full text Add to dashboard Cite

show abstract

“…[3] It is either inherited as an autosomal dominant trait or acquired due to several different pathophysiological mechanisms. An array of tests is usually required to characterize VWD type and to establish the best treatment modality.…”

Section: Introductionmentioning

confidence: 99%

Novel Von Willebrand factor gene polymorphism presenting as purpura

Sohail¹,

Wierman²

2018

BBM

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von Willebrand disease, molecular biology and diagnosis

Cited by 2 publications

References 45 publications

Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia

Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia

Novel Von Willebrand factor gene polymorphism presenting as purpura

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