Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism Academic Article uri icon

Overview

MeSH Major

  • Chorionic Villi Sampling
  • DNA Mutational Analysis
  • Factor X Deficiency
  • Genetic Linkage
  • Polymorphism, Single Nucleotide

abstract

  • This is the first reported case of prenatal diagnosis of factor X deficiency. In addition, this case demonstrates the remarkable utility of SNPs in linkage analysis of rare genetic disorders.

publication date

  • June 2003

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1002/pd.617

PubMed ID

  • 12813758

Additional Document Info

start page

  • 457

end page

  • 60

volume

  • 23

number

  • 6