A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. [electronic resource]
Producer: 20061204Description: 935-41 p. digitalISSN:- 0002-9297
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Base Sequence
- Bone Diseases, Developmental -- genetics
- DNA -- genetics
- Female
- Fingers -- abnormalities
- Hearing Loss, Bilateral -- genetics
- Hearing Loss, Sensorineural -- genetics
- Heterozygote
- Humans
- Male
- Mice
- Mice, Knockout
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Phenotype
- Protein Structure, Tertiary
- Receptor, Fibroblast Growth Factor, Type 3 -- chemistry
- Sequence Homology, Amino Acid
- Syndrome
- Toes -- abnormalities
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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