Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

A new method for sequencing DNA.

1977 • 7,941 citations

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

1987 • 5,745 citations

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

1989 • 1,295 citations

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory.

1983 • 895 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

Detection of Single Base Substitutions by Ribonuclease Cleavage at Mismatches in RNA:DNA Duplexes

1985 • 538 citations

Detection of single base substitutions in total genomic DNA

1985 • 375 citations

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1985 • 325 citations

Improvement of PCR amplified DNA sequencing with the aid of detergents

1990 • 278 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

Full-length cDNA for rabbit tryptophan hydroxylase: functional domains and evolution of aromatic amino acid hydroxylases.

1987 • 180 citations

An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2

1987 • 178 citations

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

1989 • 168 citations

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

1989 • 129 citations

Detection of single base changes in nucleic acids

1989 • 99 citations

CpG dinucleotides are mutation hot spots in phenylketonuria

1989 • 86 citations

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

1990 • 79 citations

Biological detection of specific mRNA molecules by microinjection.

1979 • 79 citations

Chemical reactivity of matched cytosine and thymine bases near mismatched and unmatched bases in a heteroduplex between DNA strands with multiple differences

1989 • 60 citations

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

1990 • 52 citations

The effect of replication errors on the mismatch analysis of PCR-amplified DNA

1990 • 51 citations

Molecular and genetic characterization of an ornithine decarboxylase-deficient Chinese hamster cell line.

1990 • 48 citations

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

1990 • 47 citations

Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria

1979 • 42 citations

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

1991 • 28 citations

Detection and localization of base changes in RNA using a chemical cleavage method

1989 • 25 citations

Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP.

1986 • 17 citations