Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations

Human Mutation

Volumn 8, Issue 3, 1996, Pages 247-257

  Seto, Donald ^a,b   Weintraub, Bruce D ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b Digital Gene Technologies Inc   (United States)

Author keywords

ADHD; Diagnostics; DNA; Fluorescence; GTHR; Mutations; PCR; Sequencing

Indexed keywords

THYROID HORMONE RECEPTOR;

ARTICLE; ATTENTION DEFICIT DISORDER; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE PREDISPOSITION; DNA SEQUENCE; GENE MUTATION; HORMONE RESISTANCE; HORMONE RESPONSE; HUMAN; HUMAN CELL; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THYROID HORMONE METABOLISM;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; DNA; DNA PRIMERS; DNA PROBES; DRUG RESISTANCE; FEMALE; HUMANS; MALE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, THYROID HORMONE; SYNDROME; THYROID DISEASES; THYROID HORMONES;

EID: 0029816729     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<247::AID-HUMU8>3.0.CO;2-6     Document Type: Article

References (8)

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