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Alagille (JAG1) Probe LPU012 - Detail
Alagille syndrome (AGS) is an autosomal dominant disorder characterised by abnormalities of liver, heart, skeleton, eye and face 1 . Mutations in the 36kb long human gene Jagged1 (JAG1) localised on 20p12 have been identified as causal for abnormalities found in patients with AGS 3,4. This gene encodes a ligand for the Notch 1 transmembrane receptor, which plays a key role in cell fate determination and differentiation 5. The syndrome has also been noted in a patient with a larger than 3 Mb deletion including JAG1 and a translocation t(3;20)(q13.3;p12.2) 5.
Reference:/Bibliographie/Literatur/Bibliografia
- Alagille D., M.G. et al (1987) J Pediatr 110: 195-200
- Li L., et al (1997) Nature Genet 16: 243-2651
- Oda T., et al (1997) Nature Genet 16 : 235-242
- Artavanis-Tsakonas S., et al (1999) Science 284 : 770-776
- Oda T., et al (2000) Human Mutat 344
Alagille (JAG1) Probe
Cat. No. LPU 012-S (5 tests)
Cat. No. LPU 012 (10 tests)
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