Receptor-Associated Protein of The Synapse (RAPSN) (C-Term) anticorps

Détails pour le produit réf. ABIN966948, Fournisseur: Connectez-vous pour afficher
Antigène
  • RAPSN
  • RAPSYN
  • RNF205
  • 43kDa
  • Nraps
  • Raps
  • rapsyn
  • receptor associated protein of the synapse
  • receptor associated protein of the synapse S homeolog
  • receptor-associated protein of the synapse
  • receptor-associated protein of the synapse, 43kD
  • RAPSN
  • rapsn.S
  • Rapsn
  • rapsn
Épitope
C-Term
15
12
6
1
1
1
1
1
1
Reactivité
Humain, Souris
43
34
19
5
5
4
4
4
2
2
1
1
1
1
Hôte
34
15
4
Clonalité
Polyclonal
Conjugué
Inconjugué
2
2
2
2
1
1
1
Application
Immunohistochemistry (IHC)
47
29
19
10
5
5
4
4
2
2
2
Options
Fournisseur
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N° du produit (Fournisseur)
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Autre désignation RAPSN (RAPSN Antibody Extrait)
Restrictions For Research Use only
Background publications Ioos, Barois, Richard, Eymard, Hantaï, Estournet-Mathiaud: "Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms." dans: Neuropediatrics, Vol. 35, Issue 4, pp. 246-9, 2004 (PubMed).

Banwell, Ohno, Sieb, Engel: "Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine." dans: Neuromuscular disorders : NMD, Vol. 14, Issue 3, pp. 202-7, 2004 (PubMed).

Müller, Mildner, Müller-Felber, Schara, Krampfl, Petersen, Petrova, Stucka, Mortier, Bufler, Kurlemann, Huebner, Merlini, Lochmüller, Abicht: "Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients." dans: Neurology, Vol. 60, Issue 11, pp. 1805-10, 2003 (PubMed).

Burke, Cossins, Maxwell, Owens, Vincent, Robb, Nicolle, Hilton-Jones, Newsom-Davis, Palace, Beeson: "Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes." dans: Neurology, Vol. 61, Issue 6, pp. 826-8, 2003 (PubMed).

Dunne, Maselli: "Identification of pathogenic mutations in the human rapsyn gene." dans: Journal of human genetics, Vol. 48, Issue 4, pp. 204-7, 2003 (PubMed).

Maselli, Dunne, Pascual-Pascual, Bowe, Agius, Frank, Wollmann: "Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering." dans: Muscle & nerve, Vol. 28, Issue 3, pp. 293-301, 2003 (PubMed).

Ohno, Engel, Shen, Selcen, Brengman, Harper, Tsujino, Milone: "Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome." dans: American journal of human genetics, Vol. 70, Issue 4, pp. 875-85, 2002 (PubMed).

Buckel, Beeson, James, Vincent: "Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1." dans: Genomics, Vol. 35, Issue 3, pp. 613-6, 1996 (PubMed).

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