Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene

Molecular and Cellular Probes

Volumn 23, Issue 3-4, 2009, Pages 148-153

  Rivolta, Carina M ^a,f   Olcese, María C ^a   Belforte, Fiorella S ^a   Chiesa, Ana ^b   Gruñeiro Papendieck, Laura ^b   Iorcansky, Sonia ^c   Herzovich, Viviana ^c   Cassorla, Fernando ^d   Gauna, Alicia ^e   Gonzalez Sarmiento, Rogelio ^f   Targovnik, Héctor M ^a,f  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b Centro de Investigaciones Endocrinologicas   (Argentina)

^c HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^d UNIVERSITY OF CHILE   (Chile)

^e HOSPITAL RAMOS MEJÍA   (Argentina)

^f UNIVERSITY OF SALAMANCA   (Spain)

Author keywords

Mutation; Protein homology; Protein secondary structure; Resistance to thyroid hormone; Thyroid hormone receptor

Indexed keywords

ADENINE; ALANINE; ASPARAGINE; ASPARTIC ACID; CYTOSINE; GUANINE; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; PROLINE; THREONINE; THYROID HORMONE; THYROID HORMONE RECEPTOR BETA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RECEPTOR GENE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SOUTH AMERICA;

CHILD; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SOUTH AMERICA; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME;

EID: 67349177763     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2009.02.002     Document Type: Article

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