Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
about
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
P2860
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Sequence and copy number analy ...... of 9 novel sequence variants.
@ast
Sequence and copy number analy ...... of 9 novel sequence variants.
@en
Sequence and copy number analy ...... of 9 novel sequence variants.
@nl
type
label
Sequence and copy number analy ...... of 9 novel sequence variants.
@ast
Sequence and copy number analy ...... of 9 novel sequence variants.
@en
Sequence and copy number analy ...... of 9 novel sequence variants.
@nl
prefLabel
Sequence and copy number analy ...... of 9 novel sequence variants.
@ast
Sequence and copy number analy ...... of 9 novel sequence variants.
@en
Sequence and copy number analy ...... of 9 novel sequence variants.
@nl
P2093
P2860
P50
P1433
P1476
Sequence and copy number analy ...... of 9 novel sequence variants.
@en
P2093
Ana Maria Oller Ramirez
Andrea Dardis
Antonella Pettinari
Bruno Bembi
Camillo Rosano
Charles Marques Lourenco
Filiz Hazan
Franco Stanzial
Mirella Filocamo
Nadia Passon
P2860
P304
P356
10.1371/JOURNAL.PONE.0041516
P407
P577
2012-07-27T00:00:00Z