A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism: Possible functionality of the PIT-1 C-terminus

Hormone Research

Volumn 56, Issue 3-4, 2001, Pages 81-86

  Blankenstein, O ^a   Muhlenberg R ^b   Kim, C ^c   Wuller S ^a   Pfaffle R ^a   Heimann, G ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Congenital hypothyroidism; Gene mutation; GH deficiency; Growth retardation; Panhypopituitarism; Pit 1; Pituitary; Pituitary transcription factor

Indexed keywords

GROWTH HORMONE; HYPOPHYSIS HORMONE; MUTANT PROTEIN; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR PIT 1;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EXON; GENE MUTATION; GENETIC ANALYSIS; HORMONE DEFICIENCY; HUMAN; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CONGENITAL HYPOTHYROIDISM; DNA-BINDING PROTEINS; GENES, RECESSIVE; HUMANS; HYPOTHYROIDISM; INFANT; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTOR PIT-1; TRANSCRIPTION FACTORS;

EID: 0035721198     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000048096     Document Type: Article

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