KEGG   VARIANT: 7038v1
Entry
7038v1                      Variant                                
Name
TG mutation
Gene
TG  thyroglobulin [KO:K10809]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 188450
Network
nt06322  TRH-TSH-TH signaling
Disease
H00251  Thyroid dyshormonogenesis
Reference
  Authors
Gutnisky VJ, Moya CM, Rivolta CM, Domene S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM
  Title
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
  Journal
J Clin Endocrinol Metab 89:646-57 (2004)
DOI:10.1210/jc.2003-030587
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
  Authors
Vono-Toniolo J, Kopp P
  Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
  Journal
Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009
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