Haemophilia B: database of point mutations and short additions and deletions

Complete nucleotide sequences of the gene for human factor IX (antihemophilic factor B)

1985 • 683 citations

The first EGF-like domain from human factor IX contains a high-affinity calcium binding site.

1990 • 190 citations

Molecular pathology of haemophilia B.

1989 • 178 citations

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4

1986 • 176 citations

Direct detection of point mutations by mismatch analysis: application to haemophilia B

1989 • 168 citations

Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B

1990 • 148 citations

Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor.

1986 • 129 citations

Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

1989 • 107 citations

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

1989 • 107 citations

Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

1983 • 93 citations

The putative factor IX gene promoter in hemophilia B Leyden

1988 • 84 citations

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

1985 • 84 citations

The incidence and distribution of CpG←Tpg transitions in the coagulation factor IX gene. A fresh look at CPG mutitional hospots

1990 • 77 citations

Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B

1987 • 60 citations

Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype)

1989 • 55 citations

A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.

1988 • 37 citations

Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction

1988 • 37 citations

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

1990 • 36 citations

A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver

1989 • 34 citations

Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide

1989 • 32 citations

DIRECT CARRIER TESTING IN 14 FAMILIES WITH HAEMOPHILIA B

1989 • 32 citations

Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B

1990 • 30 citations

Genetic defect responsible for the dysfunctional protein: factor IXLong Beach

1988 • 29 citations

Factor IX Kawachinagano: impaired function of the Gla‐domain caused by attached propeptide region due to substitution of arginine by glutamine at position −4

1989 • 29 citations

Blood clotting factor IX BM Nagoya

1989 • 26 citations

Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo

1989 • 24 citations

Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

1989 • 24 citations

Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not <scp>l</scp>-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins

1990 • 23 citations

The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence-561

1989 • 20 citations

Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.

1989 • 20 citations

Identification of a CpG mutation in the coagulation factor‐IX gene by analysis of amplified DNA sequences

1988 • 20 citations

Blood Clotting Factor IX Niigata: Substitution of Alanine-390 by Valine in the Catalytic Domain1

1988 • 19 citations

Factor IX Chongqing: a New Mutation in the Calcium-Binding Domain of Factor IX Resulting in Severe Hemophilia B

1990 • 19 citations

Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.

1989 • 19 citations

Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed‐y‐Rhiw

1989 • 18 citations

Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.

1987 • 18 citations

Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145

1989 • 17 citations

Blood Clotting Factor IX Kashihara: Amino Acid Substitution of Valine-182 by Phenylalanine1

1989 • 17 citations

A Dutch pedigree with mild hemophilia B with a missense mulation in the first EGF domain (factor IX_{Oud en Nieuw Gastel})

1989 • 10 citations

A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients: factor IX338 New York

1989 • 9 citations

A Dutch family with moderately severe hemophilia B (Factor IX_Heerde) has a missense mutation identical to that of factor lX_{London 2}

1989 • 8 citations

Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX

1990 • 7 citations