New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 7, 2010, Pages 3522-3526

  Peteiro Gonzalez, D ^a   Lee, J ^b   Rodriguez Fontan, J ^c   Castro Piedras, I ^a,d   Cameselle Teijeiro, J ^a,c   Beiras, A ^a,c   Bravo, S B ^a   Alvarez, C V ^a   Hardy, D M ^d   Targovnik, H M ^e   Arvan, P ^b   Lado Abeal, J ^a,d  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^d TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER SCHOOL OF MEDICINE   (United States)

^e UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; LIOTHYRONINE; THYROGLOBULIN; THYROID HORMONE; THYROTROPIN; THYROXINE;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; ENDOPLASMIC RETICULUM; EXON; FAMILY; FEMALE; GENE MUTATION; GENETIC TRANSCRIPTION; GOITER; HAPLOTYPE; HETEROZYGOTE; HORMONE SUBSTITUTION; HUMAN; HUMAN TISSUE; LIOTHYRONINE BLOOD LEVEL; MALE; MENTAL DEFICIENCY; PEDIGREE; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RNA SPLICING; SITE DIRECTED MUTAGENESIS; SPAIN; THYROID GLAND; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; UNIVERSITY HOSPITAL; CELL CULTURE; ELECTRON MICROSCOPY; GENETIC SCREENING; GENETICS; IMMUNOPRECIPITATION; MUTATION; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; CELLS, CULTURED; CONGENITAL HYPOTHYROIDISM; GENETIC TESTING; GOITER; HAPLOTYPES; HUMANS; IMMUNOPRECIPITATION; MALE; MICROSCOPY, ELECTRON; MUTATION; PEDIGREE; SPAIN; THYROGLOBULIN;

EID: 77954918013     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2109     Document Type: Article

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