Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

Molecular cloning: A laboratory manual

1990 • 85,659 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

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

1988 • 17,059 citations

A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments

1982 • 3,041 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

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

1983 • 627 citations

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

1988 • 313 citations

Tissue‐specific expression of porphobilinogen deaminase

1987 • 209 citations

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1986 • 141 citations

Tissue-specific splicing mutation in acute intermittent porphyria.

1989 • 122 citations

Normal Erythrocyte Uroporphyrinogen I Synthase in a Kindred with Acute Intermittent Porphyria

1981 • 65 citations

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

1985 • 64 citations

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

1987 • 49 citations

Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase.

1986 • 33 citations

Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen‐I‐synthase activity

1985 • 29 citations