Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Benzer Materyaller

• Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
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• Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
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• Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
  Yazar:: Eng, C. M., ve diğerleri
  Baskı/Yayın Bilgisi: (1997)