Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.

@article{Hojo1998SevereCF,
  title={Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.},
  author={Satoko Hojo and Jiro Fujita and Hiroshi Miyawaki and Yukihiko Obayashi and Jiro Takahara and Dennis Bartholomew},
  journal={Clinical genetics},
  year={1998},
  volume={53 1},
  pages={50-3}
}
This report is concerned with twins with cystic fibrosis (CF). They are of mixed parentage: Japanese mother and German father. One case is presented with meconium ileus as a neonate. The other patient did relatively well until the age of 6 years when she was first hospitalized and diagnosed with pulmonary aspergillosis. They have been receiving standard therapies for CF including digestive enzymes, vitamins and periodic antibiotic therapy in the US. At 19 years of age, they were tested for… CONTINUE READING

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