Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations

Molecular and Cellular Endocrinology

Volumn 322, Issue 1-2, 2010, Pages 91-98

  Moreno, José C ^a   Visser, Theo J ^b  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Congenital hypothyroidism; DEHAL1 gene; Goitrogenesis; Iodotyrosine deiodinase; Thyroid

Indexed keywords

HYDROLASE; IODIDE PEROXIDASE; IODOTYROSINE DEHALOGENASE; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; DEIODINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GOITER; HUMAN; HYPOTHYROIDISM; IODINE DEFICIENCY; MENTAL DEFICIENCY; MOLECULAR MECHANICS; PRIORITY JOURNAL; REVIEW;

GENOTYPE; GOITER; HUMANS; HYPOTHYROIDISM; IODIDE PEROXIDASE; MUTATION; PHENOTYPE;

EID: 77952878511     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2010.03.010     Document Type: Review

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