title: New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Uchiyama
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: N
authors.initials: N
authors.lastname: Taki
authors.forename: H
authors.initials: H
authors.lastname: Inamori
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D005796:Genes; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: C035801:CCSGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; D005962:Glucosylceramidase