Article
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.
Human molecular genetics - 1 Nov 1993
Kremer H, Mariman E, Otten B J, Moll G W, Stoelinga G B, Wit J M, Jansen M, Drop S L, Faas B, Ropers H H
Abstract excerpt
Familial male-limited precocious puberty is a male-limited autosomal dominant condition. It is characterized by increased testosterone synthesis in the absence of testicular stimulation by luteinizing hormone (LH). We hypothesised that an abnormal configuration of the LH receptor might autonomous...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- Codon
- DNA
- DNA Primers
- Family
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Variation
- Humans
- Lod Score
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation