Article
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.
The Journal of clinical endocrinology and metabolism - 1 Oct 1997
Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T
Abstract excerpt
Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of inherited euthyroid hyperthyroxinemia in Caucasians. To our knowledge, no such documentation on Asians exists. Six of 8 members of a 3-generation Japanese family were found by us to carry the FDH phenotype. Serum total T4...
Topics
- Adult
- Amino Acid Sequence
- Asian People
- Carrier Proteins
- Codon
- Female
- Genome
- Humans
- Hyperthyroxinemia
- Japan
- Membrane Proteins
- Mutation
- Pedigree
- Phenotype
- Serum Albumin
- Thyroid Function Tests
- Thyroid Gland
- Thyroid Hormones