Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
about
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".Understanding complexity of Fanconi anaemiaAberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.FANCA and FANCG are the major Fanconi anemia genes in the Korean population.Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia.
P2860
Q29465777-5F69020F-65B7-491A-AEAE-5087B4D09C6FQ34169373-84D7155F-7078-47E0-8C0B-F2A05B17D342Q35689795-AE8975D7-4C07-4151-80C1-723B6DA6DDB9Q37738627-BC2E9A21-F536-40E1-BDAE-E197DBA4E5C3Q41104781-3FC98252-76C0-43F3-8A6A-B017E2CA446EQ42430246-4FAD6098-FE5E-48E7-986F-167232D18613Q43854544-5E8223B6-BC55-4BA1-82B9-8ECE19E4B18BQ47837050-428962F0-A3CF-4A63-AD52-0CA313E813E8Q54605235-4DC248E2-6292-4A28-8255-3E2049F68C60
P2860
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
description
2000 nî lūn-bûn
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2000 թուականին հրատարակուած գիտական յօդուած
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2000 թվականին հրատարակված գիտական հոդված
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2000年の論文
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Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@ast
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@en
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
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label
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@ast
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@en
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@nl
prefLabel
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@ast
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@en
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@nl
P2093
P356
P1476
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
@en
P2093
P2888
P304
P356
10.1007/S100380050203
P407
P577
2000-01-01T00:00:00Z