An unusual combined insertion/deletion polymorphism in intron 10 of the human complement C6 gene

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Ultrasensitive Stain for Proteins in Polyacrylamide Gels Shows Regional Variation in Cerebrospinal Fluid Proteins

1981 • 2,972 citations

The genetics of human populations

1974 • 764 citations

Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster

1983 • 707 citations

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1991 • 491 citations

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1989 • 286 citations

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

1991 • 229 citations

The structure of human complement component C7 and the C5b-7 complex.

1988 • 199 citations

The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates

1994 • 145 citations

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1991 • 143 citations

Complete primary structure and functional characterization of the sixth component of the human complement system

1989 • 109 citations

Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes.

1995 • 99 citations

Homozygous deletions of p16/MTS1 gene are frequent but mutations are infrequent in childhood T-cell acute lymphoblastic leukemia

1995 • 89 citations

INHERITED STRUCTURAL VARIATION AND LINKAGE RELATIONSHIPS OF C7

1978 • 86 citations

Characterization of an unusual DNA length polymorphism 5' to the human antithrombin III gene

1983 • 71 citations

Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG).

1990 • 68 citations

Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K(C4), located in the complement C4 gene cluster

1994 • 63 citations

Molecular events underlying schistosomiasis-related bladder cancer

1995 • 52 citations

Structure of the human C6 gene

1993 • 42 citations

Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration.

1995 • 29 citations

DNA polymorphisms of the complement C6 and C7 genes

1995 • 24 citations

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

1994 • 24 citations

Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia

1995 • 23 citations

Complement C6 and C7 DNA polymorphisms analysed by PCR in seven ethnic groups and characterisation of the C6 MspI RFLP.

1996 • 12 citations

A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism

1996 • 9 citations

Functional analysis of an unusual length polymorphism in the human antithrombin III (AT3) gene promoter

1995 • 7 citations

Linkage Disequilibrium between Two Loci (5’ Untranslated Exon 1 and Intron 5-Ddel) of the Antithrombin III Gene in Three Ethnic Groups in Singapore

1995 • 7 citations