Associated Papers
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin K et al.
Brain : a Journal of Neurology, 2022
A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.
Bu J et al.
Indian Journal of Ophthalmology, 2016
27380975 (PubMed )
Supplement: IJO-64-364_Suppl2.pdf
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