Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.

doi:10.1016/0303-7207(95)03562-l

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Article

Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.

Molecular and cellular endocrinology - 1 Jun 1995

Gustavsson B, Eklöf C, Westermark K, Westermark B, Heldin N E

Abstract excerpt

Nucleotide sequence analysis of PCR fragments corresponding to the TSH-receptor (TSHR) amplified from genomic DNA collected from the four members of a family, two of which had Graves' thyrotoxicosis, revealed a nucleotide substitution in the first position of codon 36 of the TSH-receptor gene in...

Topics

3T3 Cells
Adult
Alleles
Amino Acid Sequence
Animals
Base Sequence
Female
Graves Disease
HLA-DR Antigens
Humans
Mice
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Receptors, Thyrotropin
Transfection

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