Mutations in two regions of FLNB result in atelosteogenesis I and III

Claire Farrington-Rock; Marc H. Firestein; Louise S. Bicknell; Andrea Superti-Furga; Carlos A. Bacino; Valerie Cormier-Daire; Martine Le Merrer; Clarisse Baumann; Joelle Roume; Patrick Rump; Joke B.G.M. Verheij; Elizabeth Sweeney; David L. Rimoin; Ralph S. Lachman; Stephen P. Robertson; Daniel H. Cohn; Deborah Krakow

doi:10.1002/humu.20348

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Mutations in two regions of FLNB result in atelosteogenesis I and III

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Mutations in two regions of FLNB result in atelosteogenesis I and III

Claire Farrington-Rock, Marc H. Firestein, Louise S. Bicknell, Andrea Superti-Furga, Carlos A. Bacino, Valerie Cormier-Daire, Martine Le Merrer, Clarisse Baumann, Joelle Roume, Patrick Rump, …

Human mutation, Vol.27(7), pp.705-710

07/2006

DOI: https://doi.org/10.1002/humu.20348

Handle:

https://hdl.handle.net/10523/36026

Abstract

atelosteogenesis I

atelosteogenesis III

CHD2

filamin B

FLNB

skeletal dysplasia

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Record Identifier: 9926517891801891
Title: Mutations in two regions of FLNB result in atelosteogenesis I and III
Creators: Claire Farrington-Rock
Marc H. Firestein
Louise S. Bicknell
Andrea Superti-Furga
Carlos A. Bacino
Valerie Cormier-Daire
Martine Le Merrer
Clarisse Baumann
Joelle Roume
Patrick Rump
Joke B.G.M. Verheij
Elizabeth Sweeney
David L. Rimoin
Ralph S. Lachman
Stephen P. Robertson
Daniel H. Cohn
Deborah Krakow
Publication Details: Human mutation, Vol.27(7), pp.705-710
Academic Unit: Biochemistry; Paediatrics and Child Health (DSM)
Publisher: Wiley Subscription Services, Inc., A Wiley Company
Date published ; e-published: 07/2006
Language: English
Resource Type ; Subtype: Journal article