Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.
about
A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a modelHaemophilia A and haemophilia B: molecular insightsHaemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview.Haemophilia: strategies for carrier detection and prenatal diagnosis.Identification of novel factor VIII inhibitor epitopes using synthetic peptide arrays.Point mutations in the dystrophin gene.Mild/moderate haemophilia A: new insights into molecular mechanisms and inhibitor development.Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII geneEctopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.Chemical cleavage of heteroduplex DNA to identify mutations.Genotype and phenotype of haemophilia A in Thai patients.Origin of mutation in sporadic cases of haemophilia A.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.Unusual expression of the F9 gene in peripheral lymphocytes hinders investigation of F9 mRNA in hemophilia B patients.Mutations in haemophilia A.Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.Detection of carriers of haemophilia A: use of bioassays and restriction fragment length polymorphisms (RFLP).Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.Factor VIII gene deletions in haemophilia A patients in Czechoslovakia.Haemophilia A and haemophilia B: molecular insights.
P2860
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P2860
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh
1991年學術文章
@zh-hant
name
Detection of three novel mutat ...... al region of factor VIII gene.
@en
Detection of three novel mutat ...... al region of factor VIII gene.
@nl
type
label
Detection of three novel mutat ...... al region of factor VIII gene.
@en
Detection of three novel mutat ...... al region of factor VIII gene.
@nl
prefLabel
Detection of three novel mutat ...... al region of factor VIII gene.
@en
Detection of three novel mutat ...... al region of factor VIII gene.
@nl
P2093
P921
P1433
P1476
Detection of three novel mutat ...... al region of factor VIII gene.
@en
P2093
A J Montandon
F Giannelli
J A Naylor
P304
P356
10.1016/0140-6736(91)92450-G
P407
P577
1991-03-01T00:00:00Z