Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
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Asparaginase treatment side-effects may be due to genes with homopolymeric Asn codons (Review-Hypothesis)Understanding the natural history of Gaucher diseaseGaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolismA Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice.Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Genetics of new-onset diabetes after transplantation.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.A Next Generation Multiscale View of Inborn Errors of Metabolism.Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
P2860
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P2860
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
description
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2012
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im März 2012 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2012/04/01)
@nl
наукова стаття, опублікована у квітні 2012
@uk
مقالة علمية (نشرت في أبريل 2012)
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name
Genome-wide association study ...... o extreme phenotypic variation
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Genome-wide association study ...... o extreme phenotypic variation
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type
label
Genome-wide association study ...... o extreme phenotypic variation
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Genome-wide association study ...... o extreme phenotypic variation
@en
prefLabel
Genome-wide association study ...... o extreme phenotypic variation
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Genome-wide association study ...... o extreme phenotypic variation
@en
P2093
P2860
P356
P1476
Genome-wide association study ...... o extreme phenotypic variation
@en
P2093
Clarence K Zhang
Gregory M Pastores
Hongyu Zhao
Judy H Cho
Philip B Stein
Pramod K Mistry
Ruhua Yang
Zuoheng Wang
P2860
P304
P356
10.1002/AJH.23118
P577
2012-03-03T00:00:00Z