Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. [electronic resource]
Producer: 20070404Description: 457-63 p. digitalISSN:- 0021-9738
- Adult
- Amino Acid Sequence
- Base Sequence
- Conserved Sequence
- DNA -- genetics
- Female
- Fibroblast Growth Factor 8 -- metabolism
- Genotype
- Gonadotropin-Releasing Hormone -- deficiency
- Heterozygote
- Humans
- Hypogonadism -- etiology
- Kallmann Syndrome -- genetics
- Male
- Models, Genetic
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Receptor, Fibroblast Growth Factor, Type 1 -- chemistry
- Receptors, LHRH -- genetics
- Sequence Deletion
- Sequence Homology, Amino Acid
- Transcription Factors -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
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