Title: | Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha-1 Chain |
Journal : | American journal of human genetics, 97, 6 |
Authors: | Logan CV, Author ; Cossins J ; Rodríguez Cruz PM ; Parry DA ; Maxwell S ; Martinez-Martinez P ; Riepsaame J ; Abdelhamed ZA ; Lake AV ; Moran M ; Robb S ; Chow G ; Sewry C ; Hopkins PM ; Sheridan E ; Jayawant S ; Palace J ; Johnson CA ; Beeson D |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 878 |
Languages: | English |
Keywords : | COL13A1 gene ; collagens ; congenital myasthenic syndrome ; CRISPR/Cas9 ; gene identification ; genetic mutations ; neuromuscular junctions ; orbicularis oculi muscle ; pharmacotherapy ; postsynaptic membrane |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2015.10.017 / Pubmed : 26626625 |
See also : |