A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

Item
http://www.wikidata.org/entity/Q28289160
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
P2860

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

Item
http://www.wikidata.org/entity/Q28289160
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@ast
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@en
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@nl
type
label
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@ast
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@en
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@nl
prefLabel
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@ast
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@en
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698