Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.
A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for the met30 mutation have developed symptoms.
Skare
J
J
Center for Human Genetics, Boston University School of Medicine, MA 02118.
Yazici
H
H
Erken
E
E
Dede
H
H
Cohen
A
A
Milunsky
A
A
Skinner
M
M
D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*; D014421:Turkey
D011228:Prealbumin; D004247:DNA; D008715:Methionine