Title : Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.

Pub. Date : 1997 Nov

PMID : 9360555






1 Functional Relationships(s)
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1 Analysis of the genomic DNA of the child"s peripheral leukocytes showed a G to A base exchange that led to a heterozygous Ser to Asn conversion at position 505 in the third transmembrane region of the TSH receptor (TSHR). Asparagine thyroid stimulating hormone receptor Homo sapiens