Article
Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.
Human molecular genetics - 1 Sept 1994
Okamoto N, Wada Y, Ida S, Koga R, Ozono K, Chiyo H, Hayashi A, Tatsumi K
Abstract excerpt
The combined deficiency of thyrotropin, growth hormone and prolactin, caused by PIT1 abnormality manifests in the homozygous or heterozygous state. We studied a patient having an allele with Arg271Trp mutation, which produces clinical symptoms in heterozygotes by a dominant-negative effect. However, in the family, her father, grandmother and aunts had the same mutation without clinical symptoms, although the...
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