Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
about
Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfismType I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exonOrnithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase geneGenetic analysis of haemophilia A in BulgariaIn search of the eighth factor: a personal reminiscenceMolecular pathology of haemophilia BSex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisThe screening of Duchenne muscular dystrophy patients for submicroscopic deletions.Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C geneCharacterization of five partial deletions of the factor VIII gene.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.The molecular basis of hemophilia A.A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutationMolecular analysis of hemophilia A mutations in the Finnish populationFamilial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.Defining DNA diagnostic tests appropriate or standard clinical careCharacterization of a spontaneous mutation to a beta-thalassemia allele.Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.Maternal duplication associated with gene deletion in sporadic hemophilia.Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutFactor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia BCharacterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.Achievements, challenges and unmet needs for haemophilia patients with inhibitors: Report from a symposium in Paris, France on 20 November 2014.A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersComplications of hemophilia A treatment: factor VIII inhibitors.Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresisCRISPR/Cas9-Mediated Three Nucleotide Insertion Corrects a Deletion Mutation in MRP1/ABCC1 and Restores Its Proper Folding and Function.Hemophilia A persistence and gene mutational vulnerability.A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequencesHaemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII geneHeterogeneity of the factor IX locus in nine hemophilia B inhibitor patients.Gene deletions correlate with the development of alloantibodies in von Willebrand disease.Defective enzyme protein in lipoprotein lipase deficiency.
P2860
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P2860
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh
1985年學術文章
@zh-hant
name
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
@en
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
@nl
type
label
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
@en
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
@nl
prefLabel
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
@en
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
@nl
P2093
P356
P1433
P1476
Detection and sequence of mutations in the factor VIII gene of haemophiliacs.
@en
P2093
Gitschier J
Goralka TM
Tuddenham EG
P2888
P304
P356
10.1038/315427A0
P407
P577
1985-05-01T00:00:00Z
P5875
P6179
1006291867