Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor g...
Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Germline mutations of thyrotropin receptor (
TSHR
) gene determining a constitutive activation of the receptor were identified as a molecular cause of familial or sporadic congenital nonautoimmune hyperthyroidism (OMIM: 609152) (Nat Genet 7:396–401,
1994
; N Engl J Med 332:150–154,
1995
; Acta Endocrinol (Copenh) 100:512–518,
1...
Alternative Titles
Full title
Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1753475080
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1753475080
Other Identifiers
ISSN
0340-6199,1432-1076
E-ISSN
1432-1076
DOI
10.1007/s00431-012-1702-z
