Jagged1 mutations in alagille syndrome.

  title={Jagged1 mutations in alagille syndrome.},
  author={Nancy B. Spinner and Raymond P Colliton and C{\'e}cile Crosnier and Ian D. Krantz and Michelle Hadchouel and Mich{\`e}le Meunier-Rotival},
  journal={Human mutation},
  volume={17 1},
We have summarized data on 233 Alagille syndrome patients reported with mutations in Jagged1 (JAG1). This data has been published by seven different laboratories in Europe, the United States, Australia, and Japan. Mutations have been demonstrated in 60-75% of patients with a clinically confirmed diagnosis of Alagille syndrome. Total gene deletions have been reported in 3-7% of patients, and the remainder have intragenic mutations. Seventy two percent (168/233) of the reported mutations lead to… CONTINUE READING
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Analysis of mutations of the Jagged1 gene in patients with Alagille syndrome: evidence for most cases being sporadic

C Crosnier, C Driancourt, +5 authors M. Meunier-Rotival
Gastroenterology 116:1141–1148. • 1999
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The most common Jagged1 missense mutation in Alagille syndrome (R184?) causes alterations in Jagged1 glycosylation

JJ Dowhanick-Morrissette, RP Colliton, +3 authors NB. Spinner
Am J Hum Genet 65:A53. • 1999
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Mutation analysis of Jagged 1 ( JAG 1 ) in Alagile syndrome patients and six novel mutations

RP Colliton, L Bason, Lu F-M, DA Piccoli, ID Krantz
Hum Mutat • 2001

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