Article
Novel mutation p.A64D in the Serpina7 gene as a cause of partial thyroxine-binding globulin deficiency associated with increases affinity in transthyretin by a known p.A109T mutation in the TTR gene.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Feb 2014
Sklate R T, Olcese M C, Maccallini G C, Sarmiento R G, Targovnik H M, Rivolta C M
Abstract excerpt
Partial thyroxine-binding globulin deficiency (TBG-PD) is an endocrine defect with a prevalence of 1:4 000 in newborns. Due to the presence of a single TBG gene on the X chromosome, most familial TBG defects follow an X-linked inheritance pattern. Abnormal T4 binding to T4-binding prealbumin (TTR) is a rare cause of euthyroid hyperthyroxinemia, which is transmitted by autosomal dominant inheritance. The purpose...
Topics
- Amino Acid Sequence
- Chromosomes, Human, X
- DNA
- Female
- Genetic Diseases, X-Linked
- Humans
- Male
- Middle Aged
- Mutation
- Mutation, Missense
- Pedigree
- Prealbumin
- Sequence Alignment