A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor β gene perpetuates resistance to thyroid hormone

Joaquin LADO-ABEAL; Alexandra M DUMITRESCU; Xiao-Hui LIAO; Ronald N COHEN; Joachim POHLENZ; Roy E WEISS; Marie-Christine LEBRETHON; Alain VERLOES; Samuel REFETOFF

doi:10.1210/jc.2004-1488

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A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor β gene perpetuates resistance to thyroid hormone

Journal article

Open access

Peer reviewed

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor β gene perpetuates resistance to thyroid hormone

Joaquin LADO-ABEAL, Alexandra M DUMITRESCU, Xiao-Hui LIAO, Ronald N COHEN, Joachim POHLENZ, Roy E WEISS, Marie-Christine LEBRETHON, Alain VERLOES and Samuel REFETOFF

The journal of clinical endocrinology and metabolism, Vol.90(3), pp.1760-1767

2005

DOI: https://doi.org/10.1210/jc.2004-1488

PMID: 15598685

Abstract

Fundamental and applied biological sciences. Psychology

Biological and medical sciences

Endocrinopathies

Medical sciences

Vertebrates: endocrinology

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https://doi.org/10.1210/jc.2004-1488View

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.141 Hormone Therapy; 1.141.407 Acute Promyelocytic Leukemia
Web Of Science research areas: Endocrinology & Metabolism
ESI research areas: Clinical Medicine

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Details

Title: A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor β gene perpetuates resistance to thyroid hormone
Creators: Joaquin LADO-ABEAL - Department of Medicine, The University of Chicago, Chicago, Illinois 60637, United States
Alexandra M DUMITRESCU - Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, United States
Xiao-Hui LIAO - Department of Medicine, The University of Chicago, Chicago, Illinois 60637, United States
Ronald N COHEN - Department of Medicine, The University of Chicago, Chicago, Illinois 60637, United States
Joachim POHLENZ - Department of Medicine, The University of Chicago, Chicago, Illinois 60637, United States
Roy E WEISS - Department of Medicine, The University of Chicago, Chicago, Illinois 60637, United States
Marie-Christine LEBRETHON - Pediatric Endocrinology, Hôpital de la Citadelle, 4000 Liège, Belgium
Alain VERLOES - Clinical Genetic Unit, Hôpital Robert Debré, 75019 Paris, France
Samuel REFETOFF - Department of Pediatrics, The University of Chicago, Chicago, Illinois 60637, United States
Publication Details: The journal of clinical endocrinology and metabolism, Vol.90(3), pp.1760-1767
Publisher: Endocrine Society
Academic Unit: Leadership Department; Miller School of Medicine; UMMG Department of Medicine
Language: English
Resource Type: Journal article
PMID: 15598685
Record Identifier: 991031598604202976