Extended mutational analyses of FGFR1 in osteoglophonic dysplasia

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2006-03, Vol.140A (5), p.537-539
Main Authors: Farrow, Emily G., Davis, Siobhan I., Mooney, Sean D., Beighton, Peter, Mascarenhas, Leo, Gutierrez, Yvonne R., Pitukcheewanont, Pisit, White, Kenneth E.
Format: Article
Language:English
Subjects:
Base Sequence
Bone Diseases, Developmental - genetics
Craniosynostoses - genetics
Crystallography, X-Ray
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Dwarfism - genetics
Humans
Models, Molecular
Mutation
Mutation, Missense
Protein Conformation
Receptor, Fibroblast Growth Factor, Type 1 - chemistry
Receptor, Fibroblast Growth Factor, Type 1 - genetics
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31106