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Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
- Source :
- Human Molecular Genetics. 4:2175-2177
- Publication Year :
- 1995
- Publisher :
- Oxford University Press (OUP), 1995.
- Subjects :
- Thanatophoric Dysplasia
Thanatophoric dysplasia
Molecular Sequence Data
Biology
Residue (chemistry)
Genetics
Extracellular
medicine
Humans
Point Mutation
Receptor, Fibroblast Growth Factor, Type 3
Amino Acid Sequence
Cysteine
Molecular Biology
Gene
Genetics (clinical)
Base Composition
Binding Sites
Base Sequence
Substitution (logic)
DNA
General Medicine
Protein-Tyrosine Kinases
medicine.disease
Receptors, Fibroblast Growth Factor
Molecular biology
Mutation (genetic algorithm)
Domain (ring theory)
Subjects
Details
- ISSN :
- 14602083 and 09646906
- Volume :
- 4
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....613e88fb4c4d70efbb9db9c32c771ce8