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 Defective TG Synthesis

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 2, 2004, Pages 646-657

  Gutnisky, Viviana J ^a   Moya, Christian M ^a   Rivolta, Carina M ^a   Domené, Sabina ^a   Varela, Viviana ^a   Toniolo, Jussara V ^b   Medeiros Neto, Geraldo ^b   Targovnik, Héctor M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYTOSINE; GUANINE; NUCLEOTIDE; THYMINE; THYROGLOBULIN;

ALLELE; AMINO ACID ANALYSIS; ARTICLE; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ETHNIC GROUP; EXON; FAMILY; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOME ANALYSIS; GOITER; HAPLOTYPE; HETEROZYGOSITY; HORMONE SYNTHESIS; HUMAN; HYPOTHYROIDISM; IN VITRO STUDY; INTRON; MALE; MOLECULAR BIOLOGY; PATIENT; PRIORITY JOURNAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; THYROGLOBULIN GENE; WILD TYPE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; BASE SEQUENCE; BRAZIL; CHROMOSOME SEGREGATION; CODON, TERMINATOR; CYTOSINE; FOUNDER EFFECT; GENETIC MARKERS; GOITER; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; THYMINE; THYROGLOBULIN;

RAPHIA FRATER;

EID: 1442327782     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030587     Document Type: Article

References (45)

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