High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients
Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated...
Main Authors: | R. Rozenberg, F.T. Araújo, D.C. Fox, P. Aranda, A. Nonino, C. Micheletti, A.M. Martins, R. Cravo, E. Sobreira, L.V. Pereira |
---|---|
Format: | Article |
Language: | English |
Published: |
Associação Brasileira de Divulgação Científica
2006-09-01
|
Series: | Brazilian Journal of Medical and Biological Research |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004 |
Similar Items
-
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
by: Ju-Young Lee, et al.
Published: (2012-02-01) -
Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)
by: Etsuro Nakanishi, et al.
Published: (2021-05-01) -
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
by: Evangelia Dimitriou, et al.
Published: (2020-09-01) -
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
by: Yoo-Mi Kim, et al.
Published: (2020-11-01) -
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
by: Anna Malekkou, et al.
Published: (2020-03-01)