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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.
Plassart, E; Reboul, J; Rime, C S; Recan, D; Millasseau, P; Eymard, B; Pelletier, J; Thomas, C; Chapon, F; Desnuelle, C.
Affiliation
  • Plassart E; INSERM U-134, Hôpital de la Salpêtrière, Paris, France.
Eur J Hum Genet ; 2(2): 110-24, 1994.
Article in En | MEDLINE | ID: mdl-8044656
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Collection: 01-internacional Database: MEDLINE Main subject: Paralyses, Familial Periodic / Sodium Channels / Point Mutation / Hyperkalemia / Myotonia Congenita Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 1994 Document type: Article Affiliation country: Country of publication:
Search on Google
Add to My VHL
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Paralyses, Familial Periodic / Sodium Channels / Point Mutation / Hyperkalemia / Myotonia Congenita Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 1994 Document type: Article Affiliation country: Country of publication: