Article
Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.
The Journal of clinical endocrinology and metabolism - 1 Nov 1994
Cogan J D, Phillips J A, Schenkman S S, Milner R D, Sakati N
Abstract excerpt
Two families with familial isolated GH deficiency (IGHD) were studied, type II (autosomal dominant) and type I (autosomal recessive), whose GH1 genes exhibit cosegregation with IGHD. DNA sequencing of the GH1 genes of the first family (IGHD II) demonstrated heterozygosity for a T-->C transition i...
Topics
- Adolescent
- Alleles
- Base Sequence
- Child
- DNA, Complementary
- Exons
- Female
- Genes, Dominant
- Genes, Recessive
- Growth Disorders
- Growth Hormone
- Humans
- Male
- Middle Aged
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Pedigree