Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 11, 2004, Pages 5669-5674

  De Sanctis, Luisa ^a   Corrias, Andrea ^b   Romagnolo, Damiano ^a   Di Palma, Tina ^c   Biava, Alessandra ^d   Borgarello, Gabriella ^a   Gianino, Paola ^a   Silvestro, Leandra ^a   Zannini, Mariastella ^c   Dianzani, Irma ^d  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HOMEODOMAIN PROTEIN; OCTAPEPTIDE; TRANSCRIPTION FACTOR PAX8;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA BINDING; ECHOGRAPHY; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSCRIPTION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HYPOPLASIA; IN VITRO STUDY; INTRON; MAJOR CLINICAL STUDY; NEWBORN SCREENING; PHENOTYPIC VARIATION; PRIORITY JOURNAL; THYROID SCINTISCANNING;

AMINO ACID SEQUENCE; DNA; DNA-BINDING PROTEINS; GENE DELETION; HELA CELLS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; THYROID GLAND; TRANS-ACTIVATORS; TRANSCRIPTION, GENETIC;

RAPHIA FRATER;

EID: 8744282728     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0398     Document Type: Article

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