An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
Data up to Jan 2025
Total Citations Per Year
Abstract
References (32)
DNA sequencing with chain-terminating inhibitors
1977 • 69,181 citations
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
1983 • 26,063 citations
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
1979 • 22,482 citations
Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
1985 • 9,128 citations
Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter
1984 • 6,459 citations
[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction
1987 • 5,745 citations
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
1984 • 4,899 citations
Comparison of initiation of protein synthesis in procaryotes, eucaryotes, and organelles
1983 • 1,256 citations
Detection of high incidence of K-ras oncogenes during human colon tumorigenesis
1987 • 1,074 citations
Direct Cloning and Sequence Analysis of Enzymatically Amplified Genomic Sequences
1986 • 766 citations
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 1985.
1992 • 740 citations
Comparison of initiation of protein synthesis in procaryotes, eucaryotes, and organelles.
1983 • 568 citations
Detection of Single Base Substitutions by Ribonuclease Cleavage at Mismatches in RNA:DNA Duplexes
1985 • 538 citations
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
1985 • 325 citations
A method to detect and characterize point mutations in transcribed genes: amplification and overexpression of the mutant c-Ki-ras allele in human tumor cells.
1985 • 320 citations
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.
1987 • 282 citations
The Molecular Basis of the Sparse Fur Mouse Mutation
1987 • 253 citations
Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage
1987 • 149 citations
Initiation codon mutation as a cause of alpha thalassemia.
1984 • 130 citations
Saccharomyces cerevisiae ribosomes recognize non-AUG initiation codons.
1984 • 110 citations
Molecular cloning of human ornithine aminotransferase mRNA.
1986 • 94 citations
An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.
1987 • 77 citations
Segment-specific mutagenesis of the regulatory region in the Escherichia coli galactose operon: isolation of mutations reducing the initiation of transcription and translation
1983 • 70 citations
Investigation of Gyrate Atrophy Using a cDNA Clone for Human Ornithine Aminotransferase
1986 • 45 citations
Genetic diseases in Lebanon
1980 • 41 citations
Molecular genetics of hemophilia A in man (factor VIII deficiency).
1987 • 39 citations
The primary structure of ornithine aminotransferase
1986 • 35 citations
Saccharomyces cerevisiae Ribosomes Recognize Non-Aug Initiation Codons
1984 • 30 citations
Clinical, biochemical, and therapeutic aspects of gyrate atrophy
1987 • 23 citations
The varieties of mutation.
1988 • 6 citations
Inborn errors of metabolism in the molecular age.
1988 • 3 citations
The varieties of mutation.
1988 • 1 citations