Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
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Genetic analysis of haemophilia A in BulgariaIn silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Haemophilia A and haemophilia B: molecular insightsHaemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.The molecular basis of hemophilia A.Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.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.Haemophilia: strategies for carrier detection and prenatal diagnosis.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.Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII geneIdentification of polymorphisms by genomic denaturing gradient gel electrophoresis: application to the proximal region of human chromosome 21.Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency.Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis.Linkage analysis in haemophilia A: simultaneous genotyping of two polymorphisms of the human factor VIII gene using induced heteroduplex formation.Factor VIII gene inversions and an XbaI polymorphism: nonradioactive detection and clinical usage.Severe haemophilia A in a female resulting from two de novo factor VIII mutations.Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A.Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.Carrier analysis for hemophilia A: ideal versus acceptable.Polymorphisms associated with the FVIII and FIX genes in the Turkish population.Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.Haemophilia A and haemophilia B: molecular insights.
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P2860
Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
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article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on March 1990
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations and a polymorphism i ...... g gradient gel electrophoresis
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Mutations and a polymorphism i ...... gradient gel electrophoresis.
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type
label
Mutations and a polymorphism i ...... g gradient gel electrophoresis
@en
Mutations and a polymorphism i ...... gradient gel electrophoresis.
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prefLabel
Mutations and a polymorphism i ...... g gradient gel electrophoresis
@en
Mutations and a polymorphism i ...... gradient gel electrophoresis.
@nl
P2860
P356
P1476
Mutations and a polymorphism i ...... g gradient gel electrophoresis
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P2093
P2860
P304
P356
10.1073/PNAS.87.6.2092
P407
P577
1990-03-01T00:00:00Z