Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient

Endocrine Journal

Volumn 53, Issue 6, 2006, Pages 735-740

  Nishihara, Eijun ^a   Fukata, Shuji ^a   Hishinuma, Akira ^b   Kudo, Takumi ^a   Ohye, Hidemi ^a   Ito, Mitsuru ^a   Kubota, Sumihisa ^a   Amino, Nobuyuki ^a   Kuma, Kanji ^a   Miyauchi, Akira ^a  

^a KUMA HOSPITAL   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Advanced bone age; Congenital onset; Germline mutation; Nonautoimmune hyperthyroidism; Thyrotropin receptor

Indexed keywords

ADENINE; ANTITHYROID AGENT; CYCLIC AMP; GENOMIC DNA; GLUTAMINE; IODINE; LEUCINE; LEVOTHYROXINE; RADIOACTIVE IODINE; THIAMAZOLE; THYMINE; THYROTROPIN RECEPTOR; THYROTROPIN RECEPTOR ANTIBODY;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DNA DETERMINATION; EXON; FEMALE; FINGER MALFORMATION; HUMAN; HYDROCEPHALUS; HYPERTHYROIDISM; INFANT; JAPANESE; LABORATORY TEST; MENTAL DEFICIENCY; NEWBORN; POINT MUTATION; PRESCHOOL CHILD; RECEPTOR GENE; SCHOOL CHILD; THYROID FUNCTION TEST;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; HYPERTHYROIDISM; MOLECULAR SEQUENCE DATA; RECEPTORS, THYROTROPIN;

EID: 33846028558     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K06-090     Document Type: Article

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