The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
Egile Nagusiak: | Müller, J, Abicht, A, Burke, G, Cossins, J, Richard, P, Baumeister, S, Stucka, R, Eymard, B, Hantaï, D, Beeson, D, Lochmüller, H |
---|---|
Formatua: | Journal article |
Hizkuntza: | English |
Argitaratua: |
2004
|
Antzeko izenburuak
-
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
nork: Muller, J, et al.
Argitaratua: (2004) -
Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
nork: Mewasingh, L, et al.
Argitaratua: (2006) -
Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes
nork: Cheung, JY
Argitaratua: (2016) -
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
nork: Beeson, D, et al.
Argitaratua: (2005) -
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
nork: Thompson, R, et al.
Argitaratua: (2018)