Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

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

1985 • 9,128 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

1988 • 1,582 citations

Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å

1978 • 784 citations

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1987 • 514 citations

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1989 • 286 citations

The effects of storage of blood and isolated DNA on the integrity of DNA

1987 • 275 citations

Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. 1956.

1993 • 268 citations

PRIMARY SYSTEMIC AMYLOIDOSIS

1956 • 212 citations

Structure of the human prealbumin gene.

1985 • 178 citations

Polymorphism of human plasma thyroxine binding prealbumin

1983 • 163 citations

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.

1986 • 160 citations

Direct sequencing of enzymatically amplified human genomic DNA.

1988 • 141 citations

Structure of the chromosomal gene for human serum prealbumin

1985 • 117 citations

Localization of the human prealbumin gene to chromosome 18

1985 • 115 citations

Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of jewish origin

1984 • 100 citations

The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).

1969 • 96 citations

THE GENETIC AMYLOIDOSES

1969 • 81 citations

A New Prealbumin Variant in Familial Amyloid Cardiomyopathy of Danish Origin

1988 • 77 citations

Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.

1988 • 72 citations

A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).

1988 • 36 citations

Restriction fragment analysis confirms the position 33 mutation in transthyretin from an Israeli patient (SKO) with familial amyloidotic polyneuropathy

1988 • 29 citations