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.
about
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradationClinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.
P2860
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.
description
2012 nî lūn-bûn
@nan
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
2012年论文
@zh
2012年论文
@zh-cn
name
Characterization of the mutant ...... otor neuron disease phenotype.
@en
Characterization of the mutant ...... otor neuron disease phenotype.
@nl
type
label
Characterization of the mutant ...... otor neuron disease phenotype.
@en
Characterization of the mutant ...... otor neuron disease phenotype.
@nl
prefLabel
Characterization of the mutant ...... otor neuron disease phenotype.
@en
Characterization of the mutant ...... otor neuron disease phenotype.
@nl
P2093
P2860
P356
P1476
Characterization of the mutant ...... otor neuron disease phenotype.
@en
P2093
Hideaki Ishiguro
Kenichiro Yamada
Nobuaki Wakamatsu
Yasukazu Yamada
Yuhei Takado
Yusuke S Kato
P2860
P304
P356
10.1093/JB/MVS131
P577
2012-11-05T00:00:00Z