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Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones, and the TPO defects are believed to be the most prevalent causes of the inborn errors of thyroid metabolism. WeExpand
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.
BACKGROUND Iodide organification defects are associated with mutations in the dual oxidase 2 (DUOX2) gene and are characterized by a positive perchlorate discharge test. These mutations produce aExpand
Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
We characterized the virtual absence of immunoassayable thyroglobulin (Tg) in the serum and thyroid gland of two siblings (MA, JNA) and one nephew (RSS) from a family without inbreeding or familialExpand
Clinical and genetic characteristics in patients with Huntington's Disease from Argentina.
UNLABELLED Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG)(n) in the HTT gene. There is scarce data about the disease in Argentina. OBJECTIVEExpand
A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.
Defective or impaired thyroglobulin (Tg) synthesis usually results in congenital goitrous hypothyroidism, virtual absence of Tg in thyroid tissue, and the presence of an elevated concentration ofExpand
Identification of a New HBA1 Gene Mutation (HBA1:c.301-2A>T) in Cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α+-thalassemia (α+-thal) phenotype: Hb Riccarton HBA1:c.154G>A)Expand
Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability
Two distinct syndromes that link α‐thalassemia and intellectual disability (ID) have been described: ATR‐X, due to mutations in the ATRX gene, and ATR‐16, a contiguous gene deletion syndrome in theExpand
Coinheritance of a Novel Mutation on the HBA1 Gene: c.187delG (p.W62fsX66) [codon 62 (–G) (α1)] with the α212 Patchwork Allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb SExpand
A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.
Two siblings (HSN and AcSN) with congenital goitrous hypothyroidism were investigated in terms of clinical, biochemical, and molecular biology. Diagnosis of defective thyroglobulin (Tg) was based onExpand
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
In this study, we have extended our initial molecular studies of a nonconsanguineous family with two affected siblings and one of their nephews with congenital goiter, hypothyroidism, and markedExpand