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

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

Ancient DNA: extraction, characterization, molecular cloning, and enzymatic amplification.

1989 • 991 citations

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

1985 • 683 citations

Isolation and characterization of a cDNA coding for human factor IX.

1982 • 415 citations

Molecular cloning of the gene for human anti-haemophilic factor IX

1982 • 272 citations

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

1988 • 228 citations

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

1983 • 207 citations

Molecular pathology of haemophilia B.

1989 • 178 citations

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

1989 • 168 citations

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1987 • 123 citations

Molybdenum cofactors from molybdoenzymes and in vitro reconstitution of nitrogenase and nitrate reductase

1977 • 117 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

Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase Deficiency

1988 • 67 citations

Maternal duplication associated with gene deletion in sporadic hemophilia.

1988 • 63 citations

Half chromatid mutations: transmission in humans?

1975 • 58 citations

Molecular analysis of hemophilia A mutations in the Finnish population.

1990 • 57 citations

Germinal mosaicism in Duchenne muscular dystrophy

1988 • 56 citations

The Molecular Basis of Severe Hemophilia B in a Girl

1986 • 46 citations

Immunoassays of factor IX antigen using monoclonal antibodies

1985 • 34 citations

A somatic mosaic for haemophilia A detected at the DNA level.

1988 • 33 citations

Variant of Factor IX Deficiency in Female with 45, X Turner’s Syndrome

1970 • 30 citations

Christmas Disease (Haemophilia B) in a Girl with Deletion of the Short Arm of One X‐Chromosome (Functional Turner Syndrome)

1976 • 22 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

Introduction to embryonic development

1980 • 18 citations

Possible gonadal mosaicism in a family with hemoglobin Köln.

1980 • 14 citations