Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

Benzer Materyaller

• Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
  Yazar:: Bernstein, H S, ve diğerleri
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• Human beta-galactosidase gene mutations in morquio B disease.
  Yazar:: Oshima, A, ve diğerleri
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  Yazar:: Eng, C. M., ve diğerleri
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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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• Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
  Yazar:: Yoshida, K, ve diğerleri
  Baskı/Yayın Bilgisi: (1991)