Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a chinese twin family with congenital goiter and hypothyroidism

Twin Research and Human Genetics

Volumn 15, Issue 1, 2012, Pages 126-132

  Liu, Shiguo ^a   Zhang, Shasha ^a   Li, Wenjie ^b   Zhang, Aiqing ^a   Qi, Fengguang ^a   Zheng, Guohua ^c   Yan, Shengli ^a   Ma, Xu ^d  

^a QINGDAO UNIVERSITY   (China)

^b Maternal and Child Healthcare Hospital of Qingdao   (China)

^c Weifang Maternal and Child Health ^*  (China)

^d NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

Author keywords

compound heterozygous mutation; congenital goiter; hypothyroidism; phenotype genotype correlations; TG gene

Indexed keywords

LEVOTHYROXINE SODIUM; THYROGLOBULIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME; CODON; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; GOITER; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; TWINS; AMINO ACID SEQUENCE; ANIMAL; CHINA; DNA SEQUENCE; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; INFANT; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; CHINA; CODON, NONSENSE; CONGENITAL HYPOTHYROIDISM; GENETIC ASSOCIATION STUDIES; GOITER; HETEROZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; THYROGLOBULIN;

EID: 84865577123     PISSN: 18324274     EISSN: None     Source Type: Journal    
DOI: 10.1375/twin.15.1.126     Document Type: Article

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