Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-β mutation: Genetic study of five unrelated families from Switzerland and Argentina

Thyroid

Volumn 13, Issue 6, 2003, Pages 553-559

  Deladoëy, Johnny ^a   Vuissoz, Jean Marc ^a   Domené, Horacio M ^c   Malik, Naseem ^b   Gruneiro Papendieck, Laura ^c   Chiesa, Ana ^c   Heinrich, Juan J ^c   Mullis, Primus E ^a,d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Institute of Forensic Medicine   (Switzerland)

^c HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^d UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CYSTEINE DERIVATIVE; MICROSATELLITE DNA; PROTEIN SUBUNIT; PROTIRELIN; THYROID HORMONE; THYROTROPIN; THYROTROPIN BETA; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; ARGENTINA; ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC STRAIN; HOMOZYGOSITY; HORMONE RELEASE; HUMAN; HYPOTHYROIDISM; MALE; NEWBORN; PRIORITY JOURNAL; STOP CODON; SWITZERLAND; THYROTROPIN BLOOD LEVEL;

EID: 0037830540     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/105072503322238818     Document Type: Article

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