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Western blotAntibody data
- Antibody Data
- Antigen structure
- References [3]
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- Product number
- ABIN356896 - Provider product page
- Provider
- antibodies-online
- Product name
- anti-Collagen, Type II, alpha 1 (COL2A1) (C-Term), (Chain alpha 1) antibody
- Antibody type
- Polyclonal
- Description
- Protein A column, followed by peptide affinity purification
- Reactivity
- Human
- Host
- Rabbit
- Epitope
- C-Term, Chain alpha 1
- Vial size
- 0.4 mL
- Storage
- Store the antibody at 2 - 8°C up to one month or (in aliquots) at -20°C for longer.
- Handling
- Avoid repeated freezing and thawing.
Submitted references Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA
Clinical genetics 2008 Mar;73(3):262-7
Clinical genetics 2008 Mar;73(3):262-7
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
McAlinden A, Majava M, Bishop PN, Perveen R, Black GC, Pierpont ME, Ala-Kokko L, Männikkö M
Human mutation 2008 Jan;29(1):83-90
Human mutation 2008 Jan;29(1):83-90
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F
American journal of medical genetics. Part A 2007 Dec 1;143A(23):2815-20
American journal of medical genetics. Part A 2007 Dec 1;143A(23):2815-20
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