Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
about
Natural history of infantile G(M2) gangliosidosis.Multi-system disorders of glycosphingolipid and ganglioside metabolismSequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile PatientsLate adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.Defective HEXB does not cleave the terminal GalNAc from DSDefective HEXB does not cleave the terminal GalNAc from keratan sulfateDefective HEXB does not cleave the terminal GalNAc from HA fragmentsClinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
P2860
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P2860
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Molecular and functional analy ...... fication of six novel alleles.
@en
Molecular and functional analy ...... fication of six novel alleles.
@nl
type
label
Molecular and functional analy ...... fication of six novel alleles.
@en
Molecular and functional analy ...... fication of six novel alleles.
@nl
prefLabel
Molecular and functional analy ...... fication of six novel alleles.
@en
Molecular and functional analy ...... fication of six novel alleles.
@nl
P2093
P2860
P1433
P1476
Molecular and functional analy ...... fication of six novel alleles.
@en
P2093
Andrea Dardis
Bruno Bembi
Eleonora Bignulin
Franco Carnevale
Kristian Vlahovicek
Marina Stroppiano
Mirella Filocamo
Stefania Zampieri
Stefano Regis
P2860
P2888
P356
10.1007/S10048-008-0145-1
P577
2008-08-29T00:00:00Z