Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism

Journal of Endocrinological Investigation

Volumn 35, Issue 10, 2012, Pages 889-892

  Liu, S G ^a   Zhang, S S ^b   Zhang, L Q ^a   Li, W J ^a   Zhang, A Q ^a   Lu, K N ^a   Wang, M J ^a   Yan, S L ^a   Ma, X ^c,d,e  

^a QINGDAO UNIVERSITY   (China)

^b Agriculture Bureau of Wendeng City   (China)

^c GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^d NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^e WORLD HEALTH ORGANIZATION   (Switzerland)

Author keywords

Congenital hypothyroidism; Mutation; PAX8; Phenotype genotype; Thyroid dysgenesis

Indexed keywords

ARGININE; GENOMIC DNA; GLYCINE; HISTIDINE; TRANSCRIPTION FACTOR PAX8; VALINE;

ARTICLE; BLOOD SAMPLING; CHILD; CHINESE; CODON; CONGENITAL HYPOTHYROIDISM; EXON; FEMALE; GENE MUTATION; HUMAN; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; THYROID DYSGENESIS;

EID: 84871897603     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/8239     Document Type: Article

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