A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes

Thyroid

Volumn 21, Issue 2, 2011, Pages 103-109

  Lado Abeal, Joaquin ^a,b   Castro Piedras, Isabel ^a,b   Palos Paz, Fernando ^a   Labarta Aizpún, Jose Ignacio ^c   Albero Gamboa, Ramon ^c  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

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

^c HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ADENYLATE CYCLASE STIMULATING G ALPHA PROTEIN SUBUNIT; CYCLIC AMP; IODINE 125; LIOTHYRONINE; LUCIFERASE; TECHNETIUM 99M; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE; UNCLASSIFIED DRUG;

ADULT; ALBRIGHT SYNDROME; ANIMAL CELL; ARTICLE; CONGENITAL HYPOTHYROIDISM; CONSTIPATION; CYCLIC AMP RESPONSIVE ELEMENT; DNA SEQUENCE; ENZYME ACTIVITY; GENETIC TRANSFECTION; HETEROZYGOSITY; HORMONE BINDING; HUMAN; HYPOTHYROIDISM; LIOTHYRONINE BLOOD LEVEL; LISTLESSNESS; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR MECHANICS; NONHUMAN; NUCLEOTIDE SEQUENCE; OBESITY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; THYROID HORMONE RESISTANCE; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; WILD TYPE;

ADULT; CONGENITAL HYPOTHYROIDISM; CYCLIC AMP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROZYGOTE; HUMANS; MALE; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PROTEIN SUBUNITS; RECEPTORS, THYROTROPIN;

EID: 79953250109     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2010.0187     Document Type: Article

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