Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site

Journal of Clinical Investigation

Volumn 101, Issue 5, 1998, Pages 1028-1035

  Pohlenz, Joachim ^a   Rosenthal, Ira M ^a   Weiss, Roy E ^a   Jhiang, Sissy M ^b   Burant, Charles ^a   Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Allele specific amplification; Frameshift; Genetics; Iodide transport; Thyroid

Indexed keywords

IODIDE; SODIUM ION; THYROTROPIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; FEMALE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; RNA ANALYSIS; SCHOOL CHILD; SODIUM TRANSPORT;

EID: 0032031728     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI1504     Document Type: Article

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