A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy

A PECULIAR FORM OF PERIPHERAL NEUROPATHY

1952 • 1,049 citations

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

1978 • 784 citations

Amyloid and Amyloidosis 1990

1991 • 255 citations

Structure of the human prealbumin gene.

1985 • 178 citations

Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement

1992 • 155 citations

Familial amyloidotic polyneuropathy

1989 • 124 citations

Haplotype analysis of familial amyloidotic polyneuropathy

1989 • 79 citations

Structural Comparisons between Mouse and Human Prealbumin1

1985 • 61 citations

Familial amyloidotic polyneuropathy and other transthyretin related disorders

1990 • 52 citations

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy

1992 • 46 citations

New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis

1991 • 39 citations

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent

1992 • 32 citations

Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan

1986 • 23 citations

Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly⁴² gene

1992 • 10 citations