Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.

Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.

Item
http://www.wikidata.org/entity/Q45864165
Genomic sequence, splicing, and gene annotationGenetic testing in familial isolated hyperparathyroidism: unexpected results and their implicationsInfluence of single nucleotide polymorphisms in factor VIII and von Willebrand factor genes on plasma factor VIII activity: the ARIC Study.A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceAlternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.Deep intronic mutations and human disease.Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.Unusual expression of the F9 gene in peripheral lymphocytes hinders investigation of F9 mRNA in hemophilia B patients.Deep intronic variations may cause mild hemophilia A.Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle.Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
P2860

Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.

Item
http://www.wikidata.org/entity/Q45864165
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Creation of a novel donor spli ...... in two haemophilia A patients.
@en
Creation of a novel donor spli ...... in two haemophilia A patients.
@nl
type
label
Creation of a novel donor spli ...... in two haemophilia A patients.
@en
Creation of a novel donor spli ...... in two haemophilia A patients.
@nl
prefLabel
Creation of a novel donor spli ...... in two haemophilia A patients.
@en
Creation of a novel donor spli ...... in two haemophilia A patients.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P356
P1433
P1476
Creation of a novel donor spli ...... in two haemophilia A patients.
@en
P2093
P2860
P304
P31
P356
10.1046/J.1365-2141.1999.01767.X
P407
P433
P478
P577
P5875
P698
P921