Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review

Fiorella Sabrina Belforte,María C. Olcese,Sofía Siffo,Patricia Papendieck,Rosa Enacan,Laura Gruñeiro-Papendieck,Ana Chiesa,Héctor M. Targovnik,Carina M. Rivolta

Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review

2016

Fiorella Sabrina Belforte
María C. Olcese
Sofía Siffo
Patricia Papendieck
Rosa Enacan
Laura Gruñeiro-Papendieck
Ana Chiesa
Héctor M. Targovnik
Carina M. Rivolta

Fil: Belforte, Fiorella Sabrina. Consejo Nacional de Investigaciones Cientificas y Tecnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica; Argentina

Keywords:

Genetics
Transient Congenital Hypothyroidism
Premature Stop Codon
Congenital hypothyroidism
DUOX2 gene
Medicine
Stop codon
Mutation

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