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Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene
Author(s) -
Kraner S.,
Burgunder J.M.,
Rösler K. M.,
Steinlein O. K.,
Sieb J. P.
Publication year - 2002
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.2002.00447_7.x
Subject(s) - neurogenetics , missense mutation , medicine , nonsense , nonsense mutation , neurology , genetics , mutation , psychiatry , gene , biology