GENOTYPE D399N R463C IN A PATIENT WITH TYPE-3 GAUCHER DISEASE PREVIOUSLY ASSIGNED GENOTYPE N370S/R463C/

Authors
TAYEBI N HERMAN J GINNS EI SIDRANSKY E
Citation
N. Tayebi et al., GENOTYPE D399N R463C IN A PATIENT WITH TYPE-3 GAUCHER DISEASE PREVIOUSLY ASSIGNED GENOTYPE N370S/R463C/, Biochemical and molecular medicine, 57(2), 1996, pp. 149-151
Citations number
20
Categorie Soggetti
Medicine, Research & Experimental",Biology
Journal title
Biochemical and molecular medicine → ACNP
ISSN journal
10773150
Volume
57
Issue
2
Year of publication
1996
Pages
149 - 151
Database
ISI
SICI code
1077-3150(1996)57:2<149:GDRIAP>2.0.ZU;2-M
Abstract
A patient with type 3 Gaucher disease is described with a novel genoty pe, D399N/R463C, established by DNA sequencing. This patient was previ ously reported as having genotype N370S/R463C. This communication now establishes that no patients reported with mutation N370S have the neu ronopathic forms of Gaucher disease and has important implications for genetic counseling. (C) 1996 Academic Press, Inc.