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Biochem Biophys Res Commun. 1992 Dec 15;189(2):851-5.

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

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  • 1Department of Pediatrics, Kumamoto University School of Medicine, Japan.


Pit-1 is a pituitary-specific transcription factor that binds to and transactivates promoters of growth hormone and prolactin genes. In three unrelated Japanese children with combined pituitary hormone deficiency, we identified three point mutations in the Pit-1 gene, Pro24Leu, Arg143Gln, and Arg271Trp, located on the major transactivation region, POU-specific domain, and POU-homeodomain, respectively.

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