A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.

doi:10.1007/BF03350302

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Article

A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.

Journal of endocrinological investigation - 1 May 1997

Putzolu M, Meloni A, Loche S, Pischedda C, Cao A, Moi P

Abstract excerpt

Laron-type dwarfism (LTD) is an autosomal recessive disorder due to mutations in the GH receptor (GHR) gene. We report the case of a Sardinian boy affected by LTD in which we found by direct genomic sequencing a nonsense mutation in the fourth exon of the GHR gene (R43X) that determines a prematu...

Topics

Base Sequence
DNA
DNA Primers
Dwarfism
Growth Disorders
Homozygote
Humans
Italy
Male
Mutation
Polymerase Chain Reaction
Receptors, Somatotropin

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