Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
about
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy geneGenome-wide detection of tissue-specific alternative splicing in the human transcriptomeMolecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.Single and coincident intragenic mutations attributable to gene conversion in a human cell line.Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patientsGaucher's disease: report of 11 cases with review of literature.Gaucher disease as a paradigm of current issues regarding single gene mutations of humansU1 small nuclear RNAs with altered specificity can be stably expressed in mammalian cells and promote permanent changes in pre-mRNA splicingNine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez DíazIdentification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.
P2860
Q24561688-E4F24C0E-E637-40F0-A478-4CC3499C7B6FQ31106050-896A7EB5-A0E3-4CFF-88D8-775BE306DC16Q33674191-E2D007D4-806B-4DEB-9DDB-076D15AD0C4CQ33970527-F068BE3F-ABF1-4750-B5E0-51FD0119B04EQ34386597-9DC3D365-3804-4035-B6CE-80D96C2EA5D7Q35194688-3D59AA69-2404-49F8-B594-DA7F92CD6076Q35194977-8455C8DB-BC15-4759-A4E5-96D631A6286AQ35605639-30A277AD-ADA2-4614-B423-EA4034F09488Q36353819-85B60480-2593-4688-B52F-C58A49D67E9FQ36680827-8CA17EAC-0C24-4122-A66A-3C7568E9DF2DQ37414072-ADD1EC19-8AD8-40CF-83FE-69526A34EBCDQ38862728-5074F4F4-617C-4900-9A1E-AD723E319766
P2860
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Gaucher disease: A G+1----A+1 ...... he acid beta-glucosidase mRNA.
@ast
Gaucher disease: A G+1----A+1 ...... he acid beta-glucosidase mRNA.
@en
type
label
Gaucher disease: A G+1----A+1 ...... he acid beta-glucosidase mRNA.
@ast
Gaucher disease: A G+1----A+1 ...... he acid beta-glucosidase mRNA.
@en
prefLabel
Gaucher disease: A G+1----A+1 ...... he acid beta-glucosidase mRNA.
@ast
Gaucher disease: A G+1----A+1 ...... he acid beta-glucosidase mRNA.
@en
P2860
P1476
Gaucher disease: A G+1----A+1 ...... the acid beta-glucosidase mRNA
@en
P2093
P2860
P304
P407
P577
1992-10-01T00:00:00Z