PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

Nature Genetics

Volumn 19, Issue 1, 1998, Pages 83-86

  Macchia, Paolo Emidio ^a   Lapi, Paola ^a   Krude, Heiko ^a,g   Pirro, Maria Teresa ^a,e   Missero, Caterina ^a   Chiovato, Luca ^b   Souabni, Abdallah ^c   Baserga, Mariangiola ^d   Tassi, Vittorio ^e   Pinchera, Aldo ^b   Fenzi, Gianfranco ^f   Grüters, Annette ^g   Busslinger, Meinrad ^c   Di Lauro, Roberto ^a  

^a STAZIONE ZOOLOGICA ANTON DOHRN   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

^d UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

^e Div ed Unita di Ric di Endocrinol   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; THYROID HORMONE; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE; TRANSCRIPTION FACTOR;

ARTICLE; CODON; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA BINDING; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; THYROID DISEASE; X RAY CRYSTALLOGRAPHY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CONGENITAL HYPOTHYROIDISM; DNA-BINDING PROTEINS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NUCLEAR PROTEINS; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; THYROID GLAND; TRANS-ACTIVATORS;

EID: 17344374131     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0598-83     Document Type: Article

References (20)

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