Two compound heterozygous mutations (c.215delA/c.2422T→C and c.387delC/c.1159G→A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect

Clinical Endocrinology

Volumn 67, Issue 2, 2007, Pages 238-246

  Rivolta, Carina M ^a,b   Louis Tisserand, Mariana ^a   Varela, Viviana ^a   Gruñeiro Papendieck, Laura ^c   Chiesa, Ana ^c   González Sarmiento, Rogelio ^b   Targovnik, Héctor M ^a,b  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

IODIDE; LEVOTHYROXINE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; DNA FLANKING REGION; DNA SEQUENCE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GOITER; HETEROZYGOSITY; HUMAN; HYPOTHYROIDISM; INTRON; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN STRUCTURE; SEQUENCE HOMOLOGY; THYROID PEROXIDASE GENE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CONGENITAL HYPOTHYROIDISM; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; IODIDE PEROXIDASE; IODIDES; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PERCHLORIC ACID; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY;

EID: 34447526388     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02869.x     Document Type: Article

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