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PMID: 2174830 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.

Human genetics ·Vol. 86 ·No. 1 ·1990-11-00 ·Pages 89-90

Skare J, Yazici H, Erken E, Dede H, Cohen A, Milunsky A, Skinner M

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.

MeSH Terms
Amyloidosis/genetics Base Sequence DNA/genetics Exons Female Homozygote Humans Male Methionine/genetics Molecular Sequence Data Mutation Pedigree Peripheral Nervous System Diseases/genetics Polymerase Chain Reaction Prealbumin/genetics Turkey
Chemicals
Prealbumin DNA Methionine
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Skare J
Center for Human Genetics, Boston University School of Medicine, MA 02118.
Yazici H
Erken E
Dede H
Cohen A
Milunsky A
Skinner M
References (4)
4 references, click to expand
  1. A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.
    Clin Genet. 1991 Jan;39(1):6-12 PMID: 1997217
  2. A new mutation causing familial amyloidotic polyneuropathy.
    Biochem Biophys Res Commun. 1989 Nov 15;164(3):1240-6 PMID: 2590199
  3. Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy.
    Clin Genet. 1988 Nov;34(5):333-8 PMID: 3229002
  4. Structure of the chromosomal gene for human serum prealbumin.
    Gene. 1985;37(1-3):191-7 PMID: 4054629
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00205182
Published
1990-11-00
Pages
89-90
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Grants
NIADDK NIH HHS · AM-07014 · United States
NIADDK NIH HHS · AM-20613 · United States
NCI NIH HHS · CA-49629 · United States
External Links
PubMed source DOI: 10.1007/BF00205182 View journal details
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