Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

Hum Mutat. 1998:Suppl 1:S62-5. doi: 10.1002/humu.1380110122.

Authors

P P Deutz-Terlouw¹, M Losekoot, C M Aalfs, R C Hennekam, E Bakker

Affiliation

¹ MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, The Netherlands.

PMID: 9452043
DOI: 10.1002/humu.1380110122

No abstract available

MeSH terms

Amino Acid Sequence
Amino Acid Substitution
Base Sequence
Binding Sites / genetics
DNA / chemistry
DNA / genetics
DNA Mutational Analysis
Family Health
Female
Humans
Male
Osteochondrodysplasias / genetics*
Pedigree
Point Mutation
Polymorphism, Single-Stranded Conformational
Protein-Tyrosine Kinases / metabolism*
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor / genetics*
Receptors, Fibroblast Growth Factor / metabolism

Substances

Receptors, Fibroblast Growth Factor
DNA
FGFR3 protein, human
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3