Differential termination of primer extension: a novel, quantifiable method for detection of point mutations

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

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1990 • 402 citations

Haemophilia B: database of point mutations and short additions and deletions--second edition

1991 • 229 citations

Molecular pathology of haemophilia B.

1989 • 178 citations

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

1991 • 174 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

Primer extension technique for the detection of single nucleotide in genomic DNA

1990 • 97 citations

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1991 • 68 citations

DIRECT CARRIER TESTING IN 14 FAMILIES WITH HAEMOPHILIA B

1989 • 32 citations

Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B

1986 • 19 citations

Detection of new mutation disease in man and mouse.

1989 • 9 citations

Methods of detection of single base substitutions in clinical genetic practice.

1990 • 8 citations

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

1990 • 5 citations