Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

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

1988 • 17,059 citations

Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose

1972 • 6,922 citations

A catalogue of splice junction sequences

1982 • 3,861 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Defective Repair Replication of DNA in Xeroderma Pigmentosum

1968 • 1,739 citations

SPLICING OF MESSENGER RNA PRECURSORS

1986 • 1,233 citations

Splicing of Messenger RNA Precursors

1984 • 874 citations

PRE-mRNA SPLICING

1986 • 673 citations

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

1983 • 627 citations

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

1990 • 395 citations

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1989 • 332 citations

Signals for the selection of a splice site in pre-mRNA

1987 • 247 citations

Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene

1983 • 235 citations

Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum.

1989 • 137 citations

Characterization of a splicing mutation in group A xeroderma pigmentosum.

1990 • 123 citations

DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.

1977 • 121 citations

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

1989 • 117 citations

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

1990 • 94 citations

Three nonsense mutations responsible for group A xeroderma pigmentosum

1992 • 86 citations

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

1989 • 82 citations

Neurological manifestations in xeroderma pigmentosum

1986 • 72 citations

The thalassemias: molecular mechanisms of human genetic disease.

1983 • 61 citations

Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum

1983 • 51 citations

A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A

1976 • 39 citations

NEURO-OTOLOGICAL ABNORMALITIES IN XERODERMA PIGMENTOSUM WITH PARTICULAR REFERENCE TO DEAFNESS

1985 • 37 citations

Sensitivity to UV radiation of fibroblasts from a Japanese group A xeroderma pigmentosum patient with mild neurological abnormalities

1987 • 32 citations

The Genetic Defect in the De Sanctis-Cacchione Syndrome

1974 • 15 citations