Pituitary dwarfism in the R271W Pit-1 gene mutation.

doi:10.1007/s004310050722

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Article

Pituitary dwarfism in the R271W Pit-1 gene mutation.

European journal of pediatrics - 1 Nov 1997

Aarskog D, Eiken H G, Bjerknes R, Myking O L

Abstract excerpt

UNLABELLED: The Pit-1 gene encodes the POU-domain transcription factor Pit-1 which is important for the differentiation of the anterior pituitary and regulation of the PRL, GH and TSH genes. As a member of the POU domain transcription factors, Pit-1 contains a DNA-binding region, consisting of a...

Topics

Arginine
DNA Mutational Analysis
DNA-Binding Proteins
Dwarfism
Female
Homeodomain Proteins
Humans
Infant
Mutation
Pituitary Gland
Pituitary Hormones
Polymorphism, Single-Stranded Conformational
Thyroid Hormones
Transcription Factor Pit-1
Transcription Factors
Tryptophan

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