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Molecular genetic analysis of a Chinese patient with Fabry disease

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出处 《Chinese Medical Journal》 SCIE CAS CSCD 2000年第2期90-92,共3页 中华医学杂志(英文版)
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参考文献12

  • 1Yuen NW,Lam CW,Chow TC,et al.A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote. Nephron . 1997
  • 2Xu YK,Ng WG.Lysosomal enzyme activities among Chinese: leukocyte alpha-galactosidase and beta-galactosidase. Human Heredity . 1988
  • 3Chen CH,Shyu PW,Wu SJ,et al.Identification of a novel point mutation ( S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Human Mutation . 1998
  • 4Kornreich R,Desnick RJ,Bishop DF.Nucleotide sequence of the humanα-galactosidase A gene. Nucleic Acids Research . 1989
  • 5Morgan SH,Crawfurd MA.Anderson-Fabry disease: a commonly missed diagnosis. British Medical Journal . 1988
  • 6Davies JP,Winchester BG,Malcolm S.Mutation analysis in patients with the typical form of Anderson-Fabry disease. Human Molecular Genetics . 1993
  • 7Lo YM,Tein MS,Lau TK,et al.Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. The American Journal of Human Genetics . 1998
  • 8Eng CM,Resnick-Silverman LA,Niehaus DJ,et al.Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. The American Journal of Human Genetics . 1993
  • 9Blanch LC,Meaney C,Morris CP.A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in theα-galactosidase A gene. Human Mutation . 1996
  • 10Sawada K,Mizoguchi K,Hishida A,et al.Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy. Clinical Nephrology . 1996

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