Article
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
Human molecular genetics - 1 Feb 1995
Kosugi S, Van Dop C, Geffner M E, Rabl W, Carel J C, Chaussain J L, Mori T, Merendino J J, Shenker A
Abstract excerpt
Familial male precocious puberty (FMPP) is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. A heterozygous mutation encoding substitution of Asp578 with Gly in transmembrane helix 6 of the G protein-coupled receptor for luteinizing hormone (LHR...
Topics
- Animals
- Cell Line
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Electrophoresis
- France
- Gene Expression
- Genes, Dominant
- Genetic Heterogeneity
- Genome, Human
- Germany
- Heterozygote
- Humans
- Indians, North American
- Male