Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

Gaudenz, K

Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. [electronic resource] - Molecular genetics and metabolism May 1998 - 76-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1096-7192

10.1006/mgme.1998.2694 doi


Acrocephalosyndactylia--genetics
Arginine
Base Sequence
Child
Craniosynostoses--genetics
Deoxyribonucleases, Type II Site-Specific
Genetic Testing
Humans
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Proline
Protein-Tyrosine Kinases
Receptor Protein-Tyrosine Kinases--genetics
Receptor, Fibroblast Growth Factor, Type 1
Receptor, Fibroblast Growth Factor, Type 2
Receptor, Fibroblast Growth Factor, Type 3
Receptor, Fibroblast Growth Factor, Type 4
Receptors, Fibroblast Growth Factor--genetics
Sequence Homology, Amino Acid