The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism

Biochimie

Volumn 81, Issue 5, 1999, Pages 425-432

  Van De Graaf, Simone A R ^a   Cammenga, Marianne ^a   Ponne, Nico J ^a   Veenboer, Geertruda J M ^a   Gons, Margreet H ^a   Orgiazzi, Jacques ^b   De Vijlder, Jan J M ^a   Ris Stalpers, Carrie ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Congenital hypothyroidism; Genetics; Thyroglobulin; Thyroid

Indexed keywords

COMPLEMENTARY DNA; DNA FRAGMENT; GLYCINE; NUCLEOTIDE; RNA; SERINE; THYROGLOBULIN;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONGENITAL HYPOTHYROIDISM; FEMALE; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HORMONE SYNTHESIS; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SCREENING; STOP CODON; THYROID GLAND; THYROID HORMONE SYNTHESIS;

EID: 0032703412     PISSN: 03009084     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0300-9084(99)80091-1     Document Type: Article

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