New autosomal recessive mutation of the TSH-β subunit gene causing central isolated hypothyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 9, 2001, Pages 4468-4471

  Vuissoz, Jean Marc ^a   Deladoëy, Johnny ^a   Buyukgebiz, Atilla ^b   Cemeroglu, Pinar ^b   Gex, Grégoire ^a   Gallati, Sabina ^a   Mullis, Primus E ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Medical Faculty of Dokux Eylul Univ   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

PROLACTIN; PROTIRELIN; THYROTROPIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CONSANGUINITY; ELECTROPHORESIS; FEMALE; HOMOZYGOSITY; HUMAN; HYPOTHYROIDISM; MALE; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; PROVOCATION TEST; RESTRICTION MAPPING; STOP CODON; THYROTROPIN BLOOD LEVEL;

AMINO ACID SUBSTITUTION; CONGENITAL HYPOTHYROIDISM; DNA; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENES, RECESSIVE; GENOME; HUMANS; HYPOTHYROIDISM; INFANT; MALE; MUTATION; PEDIGREE; RESTRICTION MAPPING; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THYROTROPIN;

RAPHIA FRATER;

EID: 0034847841     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.9.4468     Document Type: Article

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