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Paper Report for: Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112

Reference

Title: Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7
Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruneiro-Papendieck L, Chiesa A, Gonzalez-Sarmiento R, Targovnik HM
Ref: Clinical Endocrinology (Oxf), 72:112, 2010 : PubMed

        



Related information

Gene_Locus| human-TG
Mutation | R2336X_human-TG, A2234D_human-TG, R2242H_human-TG, R296X_human-TG,



Citations formats

Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruneiro-Papendieck L, Chiesa A, Gonzalez-Sarmiento R, Targovnik HM (2010)
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7
Clinical Endocrinology (Oxf) 72: 112-21

Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruneiro-Papendieck L, Chiesa A, Gonzalez-Sarmiento R, Targovnik HM (2010)
Clinical Endocrinology (Oxf) 72: 112-21



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