Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Logan CV., Cossins J., Rodríguez Cruz PM., Parry DA., Maxwell S., Martínez-Martínez P., Riepsaame J., Abdelhamed ZA., Lake AVR., Moran M., Robb S., Chow G., Sewry C., Hopkins PM., Sheridan E., Jayawant S., Palace J., Johnson CA., Beeson D.

DOI

10.1016/j.ajhg.2015.10.017

Type

Journal article

Journal

The American Journal of Human Genetics

Publisher

Elsevier BV

Publication Date

12/2015

Volume

97

Pages

878 - 885

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