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Congenital myasthenic syndrome...
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Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
Xehetasun bibliografikoak
Egile Nagusiak:
Bonifati, D
,
Webster, R
,
Maxwell, S
,
Brydson, M
,
Polizzi, A
,
Vincent, A
,
Beeson, D
Formatua:
Journal article
Argitaratua:
2004
Aleari buruzko argibideak
Deskribapena
Antzeko izenburuak
MARC erregistroa
Antzeko izenburuak
Correlation between polymorphisms in the AChR gamma and delta subunit promoters and clinical phenotype in AChR deficiency patients
nork: Bonifati, D, et al.
Argitaratua: (2004)
Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
nork: Croxen, R, et al.
Argitaratua: (2002)
End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
nork: Croxen, R, et al.
Argitaratua: (2001)
AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
nork: Faber, C, et al.
Argitaratua: (2009)
Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
nork: Croxen, R, et al.
Argitaratua: (2000)