Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.
Hum Genet
; 86(1): 89-90, 1990 Nov.
Article
in En
| MEDLINE
| ID: mdl-2174830
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prealbumin
/
Peripheral Nervous System Diseases
/
Homozygote
/
Amyloidosis
/
Methionine
/
Mutation
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Hum Genet
Year:
1990
Document type:
Article