Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Item
http://www.wikidata.org/entity/Q46104175
Niemann-Pick disease type CClinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.Miglustat: a review of its use in Niemann-Pick disease type C.Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patientsEffects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseDefining structural and evolutionary modules in proteins: a community detection approach to explore sub-domain architecture.Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type CTreatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.Niemann-Pick disease type C: a case series of Brazilian patients.The Spectrum of Niemann-Pick Type C Disease in Greece.Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?Consensus clinical management guidelines for Niemann-Pick disease type C.Role of Niemann-Pick Type C Disease Mutations in Dementia.
P2860

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Item
http://www.wikidata.org/entity/Q46104175
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Molecular analysis of NPC1 and ...... l modeling of novel mutations.
@en
Molecular analysis of NPC1 and ...... l modeling of novel mutations.
@nl
type
label
Molecular analysis of NPC1 and ...... l modeling of novel mutations.
@en
Molecular analysis of NPC1 and ...... l modeling of novel mutations.
@nl
prefLabel
Molecular analysis of NPC1 and ...... l modeling of novel mutations.
@en
Molecular analysis of NPC1 and ...... l modeling of novel mutations.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Molecular analysis of NPC1 and ...... l modeling of novel mutations.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698