Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
about
Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model.Clinical applications and implications of common and founder mutations in Indian subpopulations.Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.The face of lysosomal storage disorders in India: a need for early diagnosis.
P2860
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
@ast
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
@en
type
label
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
@ast
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
@en
prefLabel
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
@ast
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
@en
P2093
P2860
P356
P1476
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
@en
P2093
Ashish Bavdekar
Chitra Ankleshwaria
Eresha Jasinge
Frenny Sheth
Jayesh Sheth
Mamta Muranjan
Mehul Mistri
Parag Tamhankar
Sarita Gupta
Sheela Nampoothiri
P2860
P2888
P304
P356
10.1038/JHG.2014.5
P577
2014-02-13T00:00:00Z