The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

1988 • 1,582 citations

Molecular basis of base substitution hotspots in Escherichia coli

1978 • 1,185 citations

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

1985 • 683 citations

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 citations

Mutation rates differ among regions of the mammalian genome

1989 • 593 citations

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1987 • 514 citations

Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

1989 • 306 citations

Parameters affecting the yield of DNA from human blood

1987 • 190 citations

Molecular pathology of haemophilia B.

1989 • 178 citations

Life expectancy of Swedish haemophiliacs, 1831–1980

1985 • 149 citations

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

1990 • 137 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

The 5′ splice site: phylogetic evalution and variable geometry of association with U1RNA

1989 • 113 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

Kinds of mutations formed when a shuttle vector containing adducts of (+/-)-7 beta, 8 alpha-dihydroxy-9 alpha, 10 alpha-epoxy-7,8,9, 10-tetrahydrobenzo[a]pyrene replicates in human cells.

1987 • 98 citations

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

1983 • 93 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

DETECTION OF POLYMORPHISMS AT CYTOSINE PHOSPHOGUANADINE DINUCLEOTIDES AND DIAGNOSIS OF HAEMOPHILIA B CARRIERS

1989 • 75 citations

Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species

1990 • 60 citations

Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status

1986 • 54 citations

The pennsylvania hemophilia program 1973–1978

1980 • 49 citations

Description and validation of a method for simultaneous estimation of effective population size and mutation rate from human population data.

1989 • 42 citations

Mutagenic specificity of a potent carcinogen, benzo[c]phenanthrene (4R,3S)-dihydrodiol (2S,1R)-epoxide, which reacts with adenine and guanine in DNA.

1989 • 38 citations

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

1990 • 36 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 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

A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B

1986 • 27 citations

Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups.

1987 • 25 citations

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

1988 • 19 citations

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

1989 • 17 citations

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

1989 • 13 citations

Mutations at arginine residues in two Asian hemophilia B patients

1990 • 8 citations

Comparison of direct and indirect methods of carrier detection in an X‐linked disease

1990 • 5 citations