Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease

This publication has 56 references indexed in Scilit:

• Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
  Journal of Clinical Investigation, 1998
• Sickle-cell disease
  The Lancet, 1997
• Expression of Mutated Glucocerebrosidase Alleles in Human Cells
  Human Molecular Genetics, 1997
• Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
  Journal of Clinical Investigation, 1997
• Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
  Nature Genetics, 1996
• Double mutant alleles: are they rare?
  Human Molecular Genetics, 1995
• Comparative Analysis of Human DNA Variations by Fluorescence-Based Sequencing of PCR Products
  Genomics, 1994
• Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
  Journal of Medical Genetics, 1994
• The rapid detection of unknown mutations in nucleic acids
  Nature Genetics, 1993
• Detection of over 98% cystic fibrosis mutations in a Celtic population
  Nature Genetics, 1992