title: Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1.
authors.affiliation: Departments of Pathology, University of Alabama at Birmingham, West Pavilion P220, Birmingham, Alabama.
authors.forename: Yaolin
authors.initials: Y
authors.lastname: Zhou
authors.forename: Ryan R
authors.initials: RR
authors.lastname: Kraemer
authors.forename: Deniz
authors.initials: D
authors.lastname: Peker
authors.forename: Dara N
authors.initials: DN
authors.lastname: Wakefield
authors.forename: Diego A
authors.initials: DA
authors.lastname: de Idiaquez Bakula
mesh_terms: D001853:Bone Marrow / Q000201:enzymology / Q000473:pathology; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
chemical_list: D005962:Glucosylceramidase