Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.

Ahmad, F; Oyen, F; Jan, R; Budde, U; Schneppenheim, R; Saxena, R

Ahmad, F; Oyen, F; Jan, R; Budde, U; Schneppenheim, R; Saxena, R.

Affiliation

Ahmad F; Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India; Center for Translational Medicine, School of Medicine Temple University, Philadelphia, PA, USA.

Haemophilia ; 20(4): e311-7, 2014 Jul.

Article in En | MEDLINE | ID: mdl-24712919

Subject(s)

Carrier State/diagnosis; DNA Mutational Analysis; Genetic Linkage/genetics; Genetic Markers/genetics; Germ-Line Mutation/genetics; von Willebrand Diseases/diagnosis; von Willebrand Diseases/genetics; Female; Genetic Loci/genetics; Genomic Instability/genetics; Humans; Male; Pedigree; Tandem Repeat Sequences/genetics

Key words

VWD; VWF multimer; carrier detection; de novo; germline mutations; linkage markers

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Full text: 1 Database: MEDLINE Main subject: Von Willebrand Diseases / DNA Mutational Analysis / Carrier State / Genetic Markers / Germ-Line Mutation / Genetic Linkage Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Haemophilia Journal subject: HEMATOLOGIA Year: 2014 Type: Article Affiliation country: United States

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