A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 5, 2011, Pages

  Hulur, Imge ^a   Hermanns, Pia ^b   Nestoris, Claudia ^c   Heger, Sabine ^d   Refetoff, Samuel ^a   Pohlenz, Joachim ^b   Grasberger, Helmut ^a,e  

^a UNIVERSITY OF CHICAGO   (United States)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c Endokrinologikum   (Germany)

^d Children's Hospital Auf der Bult   (Germany)

^e UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DUAL OXIDASE MATURATION FACTOR 1 PROTEIN; DUAL OXIDASE MATURATION FACTOR 2 PROTEIN; OXIDOREDUCTASE; THYROTROPIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CAUSAL ATTRIBUTION; CONGENITAL HYPOTHYROIDISM; DISEASE SEVERITY; DUAL OXIDASE MATURATION FACTOR 1 GENE; FAMILY HISTORY; GENE; GENE DELETION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE NUMBER; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INFANT; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; NEWBORN SCREENING; PRIORITY JOURNAL; THYROID WEIGHT; THYROTROPIN BLOOD LEVEL; TRANSIENT CONGENITAL HYPOTHYROIDISM;

ALLELES; BLOTTING, WESTERN; CELLS, CULTURED; DNA; GENE DELETION; GENE DOSAGE; GENETIC VECTORS; HETEROZYGOTE; HUMANS; HYPOTHYROIDISM; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NADPH OXIDASE; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; THYROTROPIN; TRANSFECTION;

EID: 79955649183     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-2321     Document Type: Article

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