Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6

  1. Citterio, C.E.
  2. Morales, C.M.
  3. Bouhours-Nouet, N.
  4. Machiavelli, G.A.
  5. Bueno, E.
  6. Gatelais, F.
  7. Coutant, R.
  8. González-Sarmiento, R.
  9. Rivolta, C.M.
  10. Targovnik, H.M.
Journal:
Molecular and Cellular Endocrinology

ISSN: 1872-8057 0303-7207

Year of publication: 2015

Volume: 404

Pages: 102-112

Type: Article

DOI: 10.1016/J.MCE.2015.01.032 GOOGLE SCHOLAR

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