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Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
Hum Mutat. 2006 May;27(5):436-43. doi: 10.1002/humu.20310.
Hum Mutat. 2006.
PMID: 16575836
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB.
McDaniell R, et al.
Am J Hum Genet. 2006 Jul;79(1):169-73. doi: 10.1086/505332. Epub 2006 May 10.
Am J Hum Genet. 2006.
PMID: 16773578
Free PMC article.
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