Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients

This publication has 23 references indexed in Scilit:

• Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient
  American Journal of Medical Genetics, 1997
• Five New Gaucher Disease Mutations
  Blood Cells, Molecules, and Diseases, 1995
• Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease
  Human Mutation, 1995
• DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent
  American Journal of Medical Genetics, 1994
• A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient
  Human Molecular Genetics, 1994
• Gaucher disease: new molecular approaches to diagnosis and treatment
  Science, 1992
• Mutations in Jewish patients with Gaucher disease
  Blood, 1992
• Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
  Proceedings of the National Academy of Sciences, 1991
• The facile detection of the nt 1226 mutation of glucocerebrosidase by ‘mismatched’ PCR
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1990
• Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease
  Biochemical and Biophysical Research Communications, 1965