Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Garbes, Lutz; Kim, Kyungho; Riess, Angelika; Hoyer-Kuhn, Heike; Beleggia, Filippo; Bevot, Andrea; Kim, Mi Jeong; Huh, Yang Hoon; Kweon, Hee-Seok; Savarirayan, Ravi; Amor, David; Kakadia, Purvi M.; Lindig, Tobias; Kagan, Karl Oliver; Becker, Jutta; Boyadjiev, Simeon A.; Wollnik, Bernd; Semler, Oliver; Bohlander, Stefan K.; Kim, Jinoh; Netzer, Christian

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Author:

Garbes, Lutz; Kim, Kyungho; Riess, Angelika; Hoyer-Kuhn, Heike; Beleggia, Filippo; Bevot, Andrea; Kim, Mi Jeong; Huh, Yang Hoon; Kweon, Hee-Seok; Savarirayan, Ravi; Amor, David; Kakadia, Purvi M.; Lindig, Tobias; Kagan, Karl Oliver; Becker, Jutta; Boyadjiev, Simeon A.; Wollnik, Bernd; Semler, Oliver; Bohlander, Stefan K.; Kim, Jinoh; Netzer, Christian

Tübinger Autor(en):

Bevot, Andrea
Lindig, Tobias
Kagan, Karl Oliver
Riess, Angelika

Published in:

American Journal of Human Genetics (2015), Bd. 96, H. 3, S. 432-439

Verlagsangabe:

Cell Press

Language:

English

Full text:

http://dx.doi.org/10.1016/j.ajhg.2015.01.002

ISSN:

0002-9297