Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Endocrine

Volumn 45, Issue 2, 2014, Pages 206-212

  Cangul, Hakan ^a   Boelaert, Kristien ^b   Dogan, Murat ^c   Saglam, Yaman ^d   Kendall, Michaela ^e   Barrett, Timothy G ^b   Maher, Eamonn R ^f  

^a BAHCESEHIR UNIVERSITY   (Turkey)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c YUZUNCU YIL UNIVERSITY   (Turkey)

^d Medical Park Goztepe Hospital   (Turkey)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Congenital hypothyroidism; Dyshormonogenesis; Mutation; Thyroglobuline

Indexed keywords

THYROGLOBULIN;

ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; ECHOGRAPHY; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GOITER; HUMAN; LOSS OF FUNCTION MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; THYROGLOBULIN GENE; THYROID SCINTISCANNING;

CHROMOSOME MAPPING; CODON, NONSENSE; COHORT STUDIES; CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; DNA; FAMILY; FEMALE; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; PEDIGREE; SEQUENCE ANALYSIS, DNA; THYROGLOBULIN;

EID: 84896702715     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-013-0027-7     Document Type: Article

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