Diverse mutations in patients with Menkes disease often lead to exon skipping.

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

1993 • 1,395 citations

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1993 • 720 citations

Isolation of a partial candidate gene for Menkes disease by positional cloning

1993 • 690 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

Genetic studies of the lac repressor

1978 • 517 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 citations

Oncogenic Point Mutations in the Human Retinoblastoma Gene: Their Application to Genetic Counseling

1989 • 288 citations

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

1989 • 168 citations

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1992 • 150 citations

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.

1991 • 147 citations

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

1989 • 129 citations

Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1993 • 123 citations

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

1993 • 99 citations

An ATPase Operon Involved in Copper Resistance by Enterococcus hirae^a

1992 • 98 citations

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

1992 • 98 citations

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

1993 • 91 citations

A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA

1991 • 85 citations

An X‐linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease

1981 • 52 citations

Variability in clinical expression of Menkes syndrome

1988 • 51 citations

Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome.

1987 • 36 citations

Multipoint linkage analysis in Menkes disease.

1992 • 29 citations

Alternatively-Spliced p53 mRNA in the FAA-HTC1 Rat Hepatoma Cell Line without the Splice Site Mutations.

1992 • 14 citations