Variation in immunoregulatory genes determines the clinical phenotype of common variable immunodeficiency

@article{Mullighan1999VariationII,
  title={Variation in immunoregulatory genes determines the clinical phenotype of common variable immunodeficiency},
  author={CG Mullighan and Samantha L. Marshall and Mike Bunce and Kim St. Clair Kathy Welsh},
  journal={Genes and Immunity},
  year={1999},
  volume={1},
  pages={137-148}
}
Variation in clinical phenotype is a hallmark of many complex diseases. The cause of this clinical heterogeneity is unknown, but it may be determined by genetic factors distinct from those conferring disease susceptibility. Common variable immunodeficiency (CVID) is a complex disease of unknown aetiology and diverse clinical manifestations. We have developed a unified polymerase chain reaction and sequence-specific primer (PCR-SSP) method to simultaneously genotype multiple polymorphisms under… CONTINUE READING
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