Molecular basis of thyroid dyshormonogenesis: Genetic screening in population-based Japanese patients

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 11, 2011, Pages

  Narumi, Satoshi ^a   Muroya, Koji ^b   Asakura, Yumi ^b   Aachi, Masanori ^b,c   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c Neonatal Mass Screening Committee   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CAUSAL ATTRIBUTION; CHILD; CLINICAL CLASSIFICATION; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DUAL OXIDASE 2 GENE; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE NUMBER; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; IN VITRO STUDY; INBORN ERROR OF METABOLISM; JAPANESE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; ONSET AGE; PHENOTYPIC VARIATION; POPULATION RESEARCH; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THYROGLOBULIN GENE; THYROID DISEASE; THYROID DYSHORMONOGENESIS; THYROID FUNCTION; THYROID PEROXIDASE GENE;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT STUDIES; CONGENITAL HYPOTHYROIDISM; FEMALE; GENE FREQUENCY; GENETIC TESTING; HUMANS; JAPAN; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; THYROID FUNCTION TESTS; THYROID GLAND;

EID: 80655134848     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-1573     Document Type: Article

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