Molecular analysis of the PDS gene in a nonconsanguineous sicilian family with Pendred's syndrome

Thyroid

Volumn 15, Issue 7, 2005, Pages 734-741

  Gillam, M P ^a   Bartolone, L ^b   Kopp, Peter ^a,c   Bevenga, S ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF MESSINA   (Italy)

^c NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; IODIDE; PENDRIN; PERCHLORATE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; ECHOGRAPHY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GOITER; HETEROZYGOSITY; HUMAN; HUMAN CELL; INNER EAR; INTRON; ITALY; KIDNEY; MALE; PDS GENE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATORY SEQUENCE; REVIEW; SEQUENCE ANALYSIS; STOP CODON; THYROID FUNCTION TEST; THYROID SCINTISCANNING;

EID: 23644446480     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2005.734     Document Type: Review

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