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[Genetic and prenatal diagnosis of a pedigree affected with type 3 von Willebrand disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Zhu Haiyan, Ji Chunyan

Abstract excerpt

OBJECTIVE: To provide genetic and prenatal analysis for a pedigree affected with type 3 von Willebrand disease. METHODS: Next generation sequencing and Sanger sequencing of the VWF gene were carried out for the pedigree. Suscepted pathogenic mutation was verified among other members of the pedigree and 100 healthy controls. Prenatal diagnosis was performed on amniotic cells derived from the fetus. RESULTS: A...

Topics

Child, Preschool
Computational Biology
Female
High-Throughput Nucleotide Sequencing
Humans
Mutation
Pedigree
Prenatal Diagnosis
von Willebrand Disease, Type 3
von Willebrand Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28981926
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.007

Genes

VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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