Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

Molecular and Cellular Endocrinology

Volumn 322, Issue 1-2, 2010, Pages 44-55

  Targovnik, Héctor M ^a   Esperante, Sebastián A ^a   Rivolta, Carina M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

Congenital goiter; Hypothyroidism; Mutation; Thyroglobulin defect; Thyroglobulin gene

Indexed keywords

IODINE 131; LIOTHYRONINE; PERCHLORATE; THYROGLOBULIN; THYROTROPIN; THYROXINE;

AUTOSOMAL RECESSIVE INHERITANCE; BIOMICS; CONGENITAL HYPOTHYROIDISM; ENDEMIC GOITER; ENDOPLASMIC RETICULUM; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GOITER; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPOTHYROIDISM; LABORATORY TEST; LIOTHYRONINE BLOOD LEVEL; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOMICS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STRUCTURE; PROTEIN TRANSPORT; REVIEW; SPLICING DEFECT; THYROID HORMONE SYNTHESIS; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL;

GENETIC ASSOCIATION STUDIES; GENOTYPE; GOITER; HUMANS; HYPOTHYROIDISM; MUTATION; PHENOTYPE; THYROGLOBULIN;

EID: 77952876312     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2010.01.009     Document Type: Review

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