Steady-State Transcript Levels of the Porphobilinogen Deaminase Gene in Patients with Acute Intermittent Porphyria

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1987 • 5,745 citations

mRNA stability in mammalian cells

1995 • 1,258 citations

Simple and Rapid Preparation of Samples for PCR

1989 • 596 citations

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1990 • 402 citations

Control of messenger RNA stability in higher eukaryotes

1996 • 315 citations

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

1988 • 313 citations

A splicing-dependent regulatory mechanism that detects translation signals.

1996 • 278 citations

Prognosis of Acute Prophyria

1992 • 236 citations

Tissue‐specific expression of porphobilinogen deaminase

1987 • 209 citations

Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing.

1993 • 202 citations

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1986 • 141 citations

Human Gene Mutations Affecting RNA Processing and Translation

1993 • 123 citations

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene

1995 • 104 citations

Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria

1981 • 68 citations

Assignment of human porphobilinogen deaminase to 11q24.1→q24.2 by in situ hybridization and gene dosage studies

1991 • 63 citations

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

1996 • 60 citations

Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.

1985 • 45 citations

Protein S deficiency type I: identification of point mutations in 9 of 10 families

1995 • 44 citations

Porphobilinogen deaminase gene structure and molecular defects

1995 • 35 citations

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.

1996 • 27 citations

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

1996 • 22 citations

CRIM-positive mutations of acute intermittent porphyria in Finland

1992 • 15 citations