Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94 %) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in a small percent of...

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Detalles Bibliográficos
Autores principales: Jurkiewicz, Dorota, Gliwicz, Dorota, Ciara, Elżbieta, Gerfen, Jennifer, Pelc, Magdalena, Piekutowska-Abramczuk, Dorota, Kugaudo, Monika, Chrzanowska, Krystyna, Spinner, Nancy B., Krajewska-Walasek, Małgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774/
https://www.ncbi.nlm.nih.gov/pubmed/24748328
http://dx.doi.org/10.1007/s13353-014-0212-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774/
https://www.ncbi.nlm.nih.gov/pubmed/24748328
http://dx.doi.org/10.1007/s13353-014-0212-2

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