Transcription factor mutations and congenital hypothyroidism: Systematic genetic screening of a population-based cohort of Japanese patients

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 4, 2010, Pages 1981-1985

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

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c Kanagawa Physicians Association   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN; THYROID TRANSCRIPTION FACTOR 1; THYROID TRANSCRIPTION FACTOR 2; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR PAX8; DNA; TRANSCRIPTION FACTOR;

ARTICLE; CONGENITAL HYPOTHYROIDISM; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HELA CELL; HUMAN; HUMAN CELL; IN VITRO STUDY; JAPAN; JAPANESE; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; POLYMERASE CHAIN REACTION; POPULATION BASED CASE CONTROL STUDY; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; SITE DIRECTED MUTAGENESIS; THYROID DYSGENESIS; WILD TYPE; COHORT ANALYSIS; GENETICS; NUCLEIC ACID AMPLIFICATION; PATHOPHYSIOLOGY; PHENOTYPE; POPULATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

COHORT STUDIES; CONGENITAL HYPOTHYROIDISM; DNA; GENE DELETION; GENE DUPLICATION; GENETIC TESTING; HELA CELLS; HUMANS; JAPAN; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE; POPULATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 77951626837     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2373     Document Type: Article

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