title: Novel human pathological mutations. Gene symbol: TPO. Disease: Thyroid peroxidase deficiency.
authors.affiliation: Department of Medical Biology and Genetics, Akdeniz University Faculty of Medicine, Arapsuyu, 3, 07070, Antalya, Turkey. oalper@akdeniz.edu.tr
authors.forename: Ozgul
authors.initials: O
authors.lastname: Alper
authors.forename: Doga
authors.initials: D
authors.lastname: Turkkahraman
authors.forename: Iffet
authors.initials: I
authors.lastname: Bircan
authors.forename: Guven
authors.initials: G
authors.lastname: Luleci
mesh_terms: D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007453:Iodide Peroxidase / Q000172:deficiency* / Q000235:genetics*; D035781:Siblings; D014421:Turkey
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D007453:Iodide Peroxidase