A Novel E250X Mutation of the PIT1 Gene in a Patient with Combined Pituitary Hormone Deficiency.
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چکیده
منابع مشابه
Mutation of the PIT1 Gene in a Patient Pituitary Hormone Deficiency
PIT1 abnormality is defined as a genetic abnormality in the PIT1 gene that encodes a pituitary specific transcription factor, Pit-1/GHF-1. PIT1 abnormality indicates combined deficiency of thyrotropin (TSH), growth hormone (GH) and prolactin (PRL), and has been reported in several cases. We studied the PIT1 gene in a patient with combined deficiency of TSH, GH and PRL. A novel mutation substitu...
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ژورنال
عنوان ژورنال: Endocrine Journal
سال: 1995
ISSN: 0918-8959,1348-4540
DOI: 10.1507/endocrj.42.351