A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. [electronic resource]
Producer: 20030821Description: 251-6 p. digitalISSN:- 0268-1161
- Adolescent
- Amenorrhea -- genetics
- Amino Acid Substitution
- Animals
- COS Cells
- Chromosome Painting
- DNA -- genetics
- Exons -- genetics
- Female
- Follicle Stimulating Hormone -- pharmacology
- Genes, Recessive
- Homozygote
- Humans
- Hypogonadism -- genetics
- Microsatellite Repeats
- Mutation
- Pedigree
- Receptors, FSH -- drug effects
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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