Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene

@article{Sommer1992AssessingTU,
  title={Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene},
  author={S. Sommer},
  journal={The FASEB Journal},
  year={1992},
  volume={6},
  pages={2767 - 2774}
}
  • S. Sommer
  • Published 1992
  • Medicine
  • The FASEB Journal
Germline mutations cause or predispose to most diseases. Hemophilia B is a useful model for studying the underlying pattern of recent germline mutations in humans because the observed pattern of mutation in factor IX more closely reflects the underlying pattern of mutation than the observed pattern for many other genes. In addition, it is possible to identify and correct for biases inherent in ascertaining only those mutations that cause hemophilia. Aspects of the pattern of germline mutation… Expand
The factor IX gene as a model for analysis of human germline mutations: an update.
Recurrent mutations in the factor IX gene: founder effect or repeat de novo events
Recent human germ-line mutation: inferences from patients with hemophilia B.
  • S. Sommer
  • Biology, Medicine
  • Trends in genetics : TIG
  • 1995
PAX6 mutations reviewed
Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
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Why does the human factor IX gene have a G + C content of 40%?
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