NOTCH2 mutations in Alagille syndrome

BACKGROUND: Alagille syndrome (ALGS) is a dominant, multisystem disorder caused by mutations in the Jagged1 (JAG1) ligand in 94% of patients, and in the NOTCH2 receptor in <1%. There are only two NOTCH2 families reported to date. This study hypothesised that additional NOTCH2 mutations would be p...

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Main Authors: Kamath, Binita Maya, Bauer, Robert C, Loomes, Kathleen M, Chao, Grace, Gerfen, Jennifer, Hutchinson, Anne, Hardikar, Winita, Hirschfield, Gideon, Jara, Paloma, Krantz, Ian D, Lapunzina, Pablo, Leonard, Laura, Ling, Simon, Ng, Vicky Lee, Hoang, Phuc Le, Piccoli, David A, Spinner, Nancy Bettina
Formato: Artigo
Idioma:Inglês
Publicado: 2011
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3682659/
https://ncbi.nlm.nih.gov/pubmed/22209762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100544
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