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.
Sklate, R T
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. [electronic resource] - Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme Feb 2014 - 100-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1439-4286
10.1055/s-0033-1358741 doi
Amino Acid Sequence
Chromosomes, Human, X--genetics
DNA--chemistry
Female
Genetic Diseases, X-Linked--genetics
Humans
Male
Middle Aged
Mutation--genetics
Mutation, Missense--genetics
Pedigree
Prealbumin--chemistry
Sequence Alignment
Sequence Analysis, DNA
Thyroxine--metabolism
Thyroxine-Binding Globulin--chemistry
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. [electronic resource] - Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme Feb 2014 - 100-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1439-4286
10.1055/s-0033-1358741 doi
Amino Acid Sequence
Chromosomes, Human, X--genetics
DNA--chemistry
Female
Genetic Diseases, X-Linked--genetics
Humans
Male
Middle Aged
Mutation--genetics
Mutation, Missense--genetics
Pedigree
Prealbumin--chemistry
Sequence Alignment
Sequence Analysis, DNA
Thyroxine--metabolism
Thyroxine-Binding Globulin--chemistry