title: Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.
abstract: A patient with type 3 Gaucher disease is described with a novel genotype, D399N/R463C, established by DNA sequencing. This patient was previously reported as having genotype N370S/R463C. This communication now establishes that no patients reported with mutation N370S have the neuronopathic forms of Gaucher disease and has important implications for genetic counseling.
authors: Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors: N
authors: N
authors: Tayebi
authors: J
authors: J
authors: Herman
authors: E I
authors: EI
authors: Ginns
authors: E
authors: E
authors: Sidransky
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000097:blood; D017931:DNA Primers; D005091:Exons; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000235:genetics* / Q000473:pathology; D005819:Genetic Markers; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D004247:DNA; D005962:Glucosylceramidase