Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands

Clinical Endocrinology

Volumn 68, Issue 5, 2008, Pages 828-835

  Esperante, Sebastián A ^a   Rivolta, Carina M ^a   Miravalle, Lucrecia ^b   Herzovich, Viviana ^b   Iorcansky, Sonia ^b   Baralle, Marco ^c   Targovnik, Héctor M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^c INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GENOMIC DNA; LEUCINE; METHIONINE; SERINE; THREONINE; THYROID TRANSCRIPTION FACTOR 1; TRANSCRIPTION FACTOR PAX8;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME ANALYSIS; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; ECTOPIC THYROID GLAND; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE FUNCTION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; INFANT; INTRON; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PAX8 GENE; PRIORITY JOURNAL; PROTEIN DNA BINDING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TG GENE; THYROID DYSGENESIS; TRANSCRIPTION INITIATION; TRANSCRIPTION REGULATION;

ADOLESCENT; ADULT; AGED; CONGENITAL HYPOTHYROIDISM; FEMALE; GENE EXPRESSION; HUMANS; MALE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; THYROID DYSGENESIS;

EID: 42149129641     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.03111.x     Document Type: Article

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