Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Bertrand Coste; G. Houge; M. Murray; N. Stitziel; M. Bandell; M. Giovanni; A. Philippakis; A. Hoischen; G. Riemer; U. Steen; V. Steen; J. Mathur; J. Cox; M. Lebo; H. Rehm; S. Weiss; J. Wood; R. Maas; S. Sunyaev; A. Patapoutian

doi:10.1073/pnas.1221400110

Journal Articles Proceedings of the National Academy of Sciences of the United States of America Year : 2013

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

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1

Bertrand Coste

Function : Author
PersonId : 17462
IdHAL : bertrand-coste
ORCID : 0000-0002-0163-2494
IdRef : 117705268

Laboratoire de Neurosciences Cognitives [Marseille]

G. Houge

Function : Author

M. Murray

Function : Author

N. Stitziel

Function : Author

M. Bandell

Function : Author

M. Giovanni

Function : Author

A. Philippakis

Function : Author

A. Hoischen

Function : Author

G. Riemer

Function : Author

U. Steen

Function : Author

V. Steen

Function : Author

J. Mathur

Function : Author

J. Cox

Function : Author

M. Lebo

Function : Author

H. Rehm

Function : Author

S. Weiss

Function : Author

J. Wood

Function : Author

R. Maas

Function : Author

S. Sunyaev

Function : Author

A. Patapoutian

Function : Author

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Life Sciences [q-bio]

Bertrand Coste : Connect in order to contact the contributor

https://hal-amu.archives-ouvertes.fr/hal-03464424

Submitted on : Friday, December 3, 2021-11:12:28 AM

Last modification on : Wednesday, June 1, 2022-3:11:30 AM

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hal-03464424 , version 1 (03-12-2021)

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HAL Id : hal-03464424 , version 1
DOI : 10.1073/pnas.1221400110
PUBMEDCENTRAL : PMC3607045

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Bertrand Coste, G. Houge, M. Murray, N. Stitziel, M. Bandell, et al.. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proceedings of the National Academy of Sciences of the United States of America, 2013, 110 (12), pp.4667-4672. ⟨10.1073/pnas.1221400110⟩. ⟨hal-03464424⟩

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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

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