A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

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

1988 • 17,059 citations

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1988 • 4,259 citations

The scanning model for translation: an update.

1989 • 3,525 citations

Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries.

1978 • 1,117 citations

Highly sensitive two-site immunoradiometric assay of parathyrin, and its clinical utility in evaluating patients with hypercalcemia.

1987 • 809 citations

Transcription of the dystrophin gene in human muscle and non-muscle tissues

1988 • 733 citations

Illegitimate transcription: transcription of any gene in any cell type.

1989 • 647 citations

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

1983 • 627 citations

Mendelian Inheritance in Man

1987 • 599 citations

Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

1989 • 306 citations

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.

1990 • 293 citations

Improvement of PCR amplified DNA sequencing with the aid of detergents

1990 • 278 citations

Nucleotide sequence of the human parathyroid hormone gene.

1983 • 206 citations

Effect of 5' splice site mutations on splicing of the preceding intron.

1990 • 200 citations

Control of Alternative Splicing by the Differential Binding of U1 Small Nuclear Ribonucleoprotein Particle

1991 • 191 citations

A mechanism of protein localization: the signal hypothesis and bacteria.

1980 • 127 citations

Complete amino acid sequence of human parathyroid hormone

1978 • 124 citations

Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

1986 • 106 citations

Human parathyroid hormone gene (PTH) is on short arm of chromosome 11

1983 • 95 citations

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

1990 • 82 citations

Familial Isolated Hypoparathyroidism

1986 • 80 citations

Restriction fragment length polymorphisms at the human parathyroid hormone gene locus

1984 • 64 citations

Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred

1981 • 56 citations

Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.

1988 • 49 citations

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

1990 • 39 citations

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain

1991 • 35 citations

Familial Idiopathic Hypoparathyroidism

1968 • 30 citations

Renal responsiveness to synthetic human parathyroid hormone 1–38 in healthy subjects

1989 • 14 citations