Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.

doi:10.1007/s004390050597

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Article

Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.

Human genetics - 1 Nov 1997

Missarelli C, Herrera L, Mericq V, Carvallo P

Abstract excerpt

Four distinct types of isolated growth hormone deficiency (IGHD) have been described to date. Of these IGHD type II has been defined as having a dominant mode of inheritance. We performed a molecular genetic analysis of two patients clinically characterized as IGHD type II. One of the patients an...

Topics

Adult
Animals
Base Sequence
COS Cells
Child
Cloning, Molecular
DNA Primers
Female
Genes, Dominant
Heterozygote
Human Growth Hormone
Humans
Infant
Introns
Male
Mutation
Pedigree
Point Mutation

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