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]
Producer: 20141009Description: 100-8 p. digitalISSN:- 1439-4286
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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