Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.

doi:10.1093/hmg/3.9.1565

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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. Howev...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Congenital Hypothyroidism
DNA Primers
DNA, Complementary
DNA-Binding Proteins
Female
Heterozygote
Humans
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Pedigree

Phenotype

Point Mutation

Polymerase Chain Reaction

RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 7833912
DOI: 10.1093/hmg/3.9.1565

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7833912-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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