Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Item
http://www.wikidata.org/entity/Q36695846
Previously unrecognized behavioral phenotype in Gaucher disease type 3Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eyeUbiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model.Gaucher-Associated Parkinsonism.Novel pathogenic mutations in the glucocerebrosidase locus.A familial concurrence of schizophrenia and Gaucher's disease.Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central ChinaLong-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Gaucher disease and cancer: concept and controversy.Gaucher disease and the synucleinopathies: refining the relationship.Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.Gaucher disease in Syrian children: common mutations identification, and clinical futures.Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
P2860

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Item
http://www.wikidata.org/entity/Q36695846
description
2006 nî lūn-bûn
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2006年の論文
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2006年論文
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2006年論文
@zh-hant
2006年論文
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2006年論文
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2006年論文
@zh-tw
2006年论文
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2006年论文
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2006年论文
@zh-cn
name
Gaucher disease among Chinese ...... ion of novel and rare alleles.
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Gaucher disease among Chinese ...... ion of novel and rare alleles.
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type
label
Gaucher disease among Chinese ...... ion of novel and rare alleles.
@ast
Gaucher disease among Chinese ...... ion of novel and rare alleles.
@en
prefLabel
Gaucher disease among Chinese ...... ion of novel and rare alleles.
@ast
Gaucher disease among Chinese ...... ion of novel and rare alleles.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Gaucher disease among Chinese ...... ion of novel and rare alleles.
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P2093
P304
P31
P356
10.1016/J.BCMD.2006.11.003
P433
P478
P50
P577
P5875
P698